ATP8B4
ATPase phospholipid transporting 8B4 (putative)
Summary
This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Known Variants85 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2544757470 | 15:50,152,405 | T/C | — | uncertain significance |
| rs1031350149 | 15:50,152,408 | T/C | — | uncertain significance |
| rs147231843 | 15:50,152,447 | T/C | — | uncertain significance |
| rs115284127 | 15:50,152,449 | C/T | — | uncertain significance |
| rs16962989 | 15:50,152,475 | A/T | — | benign |
| rs779383571 | 15:50,152,522 | C/T | — | uncertain significance |
| rs114457386 | 15:50,152,594 | T/C | — | uncertain significance |
| rs764517232 | 15:50,152,608 | C/T | — | uncertain significance |
| rs540983729 | 15:50,152,623 | C/T | — | uncertain significance |
| rs771493565 | 15:50,152,669 | G/A | — | uncertain significance |
| rs2544802107 | 15:50,154,476 | A/G | — | uncertain significance |
| rs2544802741 | 15:50,154,515 | G/A | — | uncertain significance |
| rs1358492829 | 15:50,154,516 | T/C | — | uncertain significance |
| rs760521345 | 15:50,154,554 | A/G | — | uncertain significance |
| rs8038434 | 15:50,158,183 | A/T | regulatory region variant | — |
| rs2544868346 | 15:50,158,546 | C/T | — | uncertain significance |
| rs115515712 | 15:50,158,636 | T/G | — | uncertain significance |
| rs760415109 | 15:50,158,642 | C/T | — | uncertain significance |
| rs377055699 | 15:50,158,660 | A/G | — | uncertain significance |
| rs753988142 | 15:50,168,488 | A/G | — | uncertain significance |
| rs116653049 | 15:50,168,539 | A/G | — | uncertain significance |
| rs139968118 | 15:50,168,644 | C/T | — | uncertain significance |
| rs749142543 | 15:50,168,645 | G/T | — | uncertain significance |
| rs1241313246 | 15:50,168,677 | T/G | — | uncertain significance |
| rs1598841466 | 15:50,168,692 | C/A | — | uncertain significance |
| rs757108850 | 15:50,168,707 | T/C | — | uncertain significance |
| rs1225478671 | 15:50,171,628 | A/G | — | uncertain significance |
| rs779047801 | 15:50,171,635 | T/C | — | uncertain significance |
| rs909644023 | 15:50,189,530 | C/G | — | uncertain significance |
| rs147687093 | 15:50,189,562 | T/C | — | uncertain significance |
| rs143804562 | 15:50,190,300 | A/G | — | uncertain significance |
| rs770207242 | 15:50,190,370 | C/T | — | uncertain significance |
| rs749196285 | 15:50,193,351 | C/G | — | uncertain significance |
| rs755275195 | 15:50,209,189 | T/G | — | uncertain significance |
| rs770767838 | 15:50,209,224 | T/C | — | uncertain significance |
| rs144592750 | 15:50,211,086 | C/A | — | uncertain significance |
| rs1481060894 | 15:50,211,138 | C/T | — | uncertain significance |
| rs534438641 | 15:50,212,585 | C/T | — | uncertain significance |
| rs1271287827 | 15:50,212,591 | C/T | — | uncertain significance |
| rs1280658552 | 15:50,215,592 | G/A | — | uncertain significance |
| rs368117512 | 15:50,215,635 | A/G | — | uncertain significance |
| rs149949431 | 15:50,215,645 | A/G | — | likely benign |
| rs4386084 | 15:50,219,253 | C/T | intron variant | — |
| rs140925871 | 15:50,223,504 | C/T | — | uncertain significance |
| rs1177281827 | 15:50,226,238 | C/T | — | uncertain significance |
| rs114314451 | 15:50,226,341 | C/T | — | benign |
| rs55687265 | 15:50,226,359 | G/C | missense variant | — |
| rs200015133 | 15:50,264,784 | A/T | — | uncertain significance |
| rs115015219 | 15:50,264,848 | C/T | — | uncertain significance |
| rs144725991 | 15:50,264,865 | A/G | — | uncertain significance |
| rs77004004 | 15:50,264,910 | G/C | — | uncertain significance |
| rs992617847 | 15:50,264,941 | G/A | — | uncertain significance |
| rs942745173 | 15:50,264,971 | G/C | — | uncertain significance |
| rs775602637 | 15:50,271,893 | A/G | — | uncertain significance |
| rs140655722 | 15:50,271,905 | C/T | — | uncertain significance |
| rs752148029 | 15:50,273,423 | T/C | — | uncertain significance |
| rs199530533 | 15:50,273,472 | C/T | — | uncertain significance |
| rs201751579 | 15:50,273,473 | A/T | — | uncertain significance |
| rs2505087084 | 15:50,273,491 | C/T | — | uncertain significance |
| rs1296436113 | 15:50,279,633 | T/G | — | uncertain significance |
| rs199543753 | 15:50,279,679 | G/C | — | uncertain significance |
| rs771553739 | 15:50,279,729 | C/T | — | uncertain significance |
| rs759224177 | 15:50,288,951 | G/A | — | uncertain significance |
| rs1373112801 | 15:50,288,954 | T/A | — | uncertain significance |
| rs932725631 | 15:50,294,377 | C/T | — | uncertain significance |
| rs745360115 | 15:50,303,055 | T/G | — | uncertain significance |
| rs2414000 | 15:50,312,468 | T/C | — | — |
| rs150442623 | 15:50,330,979 | C/T | — | likely benign |
| rs766051030 | 15:50,330,980 | A/T | — | uncertain significance |
| rs369023249 | 15:50,330,996 | T/G | — | uncertain significance |
| rs2507002472 | 15:50,339,595 | A/C | — | uncertain significance |
| rs2507005057 | 15:50,339,645 | G/A | — | uncertain significance |
| rs773097840 | 15:50,339,650 | G/C | — | uncertain significance |
| rs762612545 | 15:50,339,654 | C/T | — | uncertain significance |
| rs111544170 | 15:50,341,811 | A/C | — | — |
| rs7172615 | 15:50,357,743 | G/T | regulatory region variant | — |
| rs12050709 | 15:50,359,224 | T/C | intron variant | — |
| rs113119217 | 15:50,365,648 | T/C | — | — |
| rs182947621 | 15:50,366,325 | G/A | — | uncertain significance |
| rs2414016 | 15:50,382,705 | A/T | — | — |
| rs12442280 | 15:50,387,933 | C/T | — | — |
| rs12905011 | 15:50,395,816 | G/A | intron variant | — |
| rs10519262 | 15:50,432,494 | G/A | intron variant | — |
| rs1896171 | 15:50,462,878 | C/G | — | — |
| rs8041483 | 15:50,465,221 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.