NADSYN1

NAD synthetase 1

Summary

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

Known Variants101 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs961021085	11:71,163,653	G/A	—	uncertain significance
rs756922749	11:71,164,424	A/G	—	uncertain significance
rs7944926	11:71,165,625	A/T	—	—
rs2120383809	11:71,166,154	A/C	—	pathogenic
rs769220327	11:71,166,215	T/C	—	pathogenic
rs4944957	11:71,168,035	A/G	upstream gene variant	—
rs4944958	11:71,168,073	A/G	upstream gene variant	—
rs551641223	11:71,169,524	C/T	—	uncertain significance
rs2276360	11:71,169,547	G/C	missense variant	benign
rs372644255	11:71,169,580	G/A	—	uncertain significance
rs2539257299	11:71,169,581	A/G	—	uncertain significance
rs7938885	11:71,170,043	T/G	—	—
rs12800438	11:71,171,003	G/A	intron variant	—
rs4423214	11:71,173,254	C/T	intron variant	—
rs2276362	11:71,174,452	A/G	—	benign
rs1629220	11:71,174,553	C/T	intron variant	benign
rs1461465973	11:71,175,124	A/G	—	uncertain significance
rs2539261580	11:71,175,127	G/T	—	uncertain significance
rs540999843	11:71,175,151	C/T	—	uncertain significance
rs201096943	11:71,175,160	C/T	—	conflicting classifications of pathogenicity
rs753157528	11:71,175,165	G/T	—	uncertain significance
rs142412970	11:71,175,174	G/A	—	likely benign
rs189928649	11:71,175,176	G/T	—	uncertain significance
rs12278461	11:71,182,185	C/T	intron variant	—
rs2282621	11:71,183,474	C/T	—	benign
rs2282620	11:71,183,477	C/T	—	benign
rs2282618	11:71,183,737	T/G	—	—
rs769184655	11:71,184,372	A/C	—	uncertain significance
rs764123669	11:71,184,388	G/A	—	pathogenic
rs138657763	11:71,184,617	C/T	—	uncertain significance
rs1478493766	11:71,184,628	A/G	—	uncertain significance
rs7950441	11:71,184,678	A/C	—	benign
rs137910047	11:71,184,686	G/A	—	uncertain significance
rs773762939	11:71,184,695	A/C	—	uncertain significance
rs766741110	11:71,184,702	G/C	—	uncertain significance
rs759511153	11:71,184,718	A/G	—	uncertain significance
rs757972912	11:71,184,719	T/C	—	uncertain significance
rs145980605	11:71,185,443	C/T	—	likely benign
rs2276354	11:71,185,479	T/C	—	benign
rs1949650831	11:71,185,509	T/A	—	pathogenic
rs2186778	11:71,185,518	C/T	—	benign
rs1337954666	11:71,185,534	G/A	—	likely benign
rs781464575	11:71,185,549	T/A	—	uncertain significance
rs4944062	11:71,187,294	G/A	—	—
rs3794060	11:71,187,679	C/T	intron variant	—
rs2276353	11:71,189,436	T/C	—	benign
rs1178802020	11:71,189,439	A/G	—	uncertain significance
rs147929525	11:71,189,477	C/T	—	uncertain significance
rs369703615	11:71,189,514	C/T	—	uncertain significance
rs76770512	11:71,191,851	G/A	—	likely benign
rs2539276015	11:71,192,415	T/C	—	uncertain significance
rs2539276028	11:71,192,425	G/C	—	uncertain significance
rs746448347	11:71,193,009	C/T	—	likely pathogenic
rs768388994	11:71,193,023	C/T	—	uncertain significance
rs773674656	11:71,193,033	C/G	—	uncertain significance
rs766035231	11:71,193,053	G/A	—	likely benign
rs147585323	11:71,193,059	A/G	—	likely benign
rs1225061342	11:71,193,910	C/T	—	uncertain significance
rs1949718624	11:71,193,933	C/T	—	uncertain significance
rs1347275450	11:71,193,941	C/G	—	uncertain significance
rs184748544	11:71,193,951	C/A	—	uncertain significance
rs372454516	11:71,193,960	C/G	—	uncertain significance
rs1949719160	11:71,193,991	G/T	—	uncertain significance
rs760802318	11:71,194,024	C/T	—	uncertain significance
rs149234649	11:71,194,032	C/T	—	uncertain significance
rs757986804	11:71,194,053	C/G	—	uncertain significance
rs3829251	11:71,194,559	G/A	intron variant	—
rs116695422	11:71,195,379	C/T	—	benign
rs148415329	11:71,195,398	G/A	—	likely benign
rs2539279241	11:71,195,409	C/G	—	uncertain significance
rs150460226	11:71,195,477	C/T	—	uncertain significance
rs368115694	11:71,196,591	C/T	—	pathogenic
rs370407671	11:71,196,609	G/A	—	uncertain significance
rs2539280903	11:71,196,682	A/G	—	uncertain significance
rs373555596	11:71,201,949	G/A	—	uncertain significance
rs768134862	11:71,201,972	G/C	—	uncertain significance
rs201788486	11:71,201,979	G/A	—	uncertain significance
rs147894575	11:71,202,873	G/T	—	likely benign
rs144139747	11:71,202,902	G/A	—	pathogenic
rs1949781909	11:71,202,926	G/A	—	uncertain significance
rs201006776	11:71,202,944	G/A	—	conflicting classifications of pathogenicity
rs369264749	11:71,208,522	T/A	—	conflicting classifications of pathogenicity
rs35007971	11:71,208,537	G/A	—	benign
rs371881712	11:71,208,551	C/T	—	uncertain significance
rs775810357	11:71,208,560	C/T	—	uncertain significance
rs753850438	11:71,208,566	A/G	—	uncertain significance
rs1949828162	11:71,208,586	G/A	—	uncertain significance
rs1008561025	11:71,208,603	C/G	—	pathogenic
rs140975612	11:71,208,624	C/T	—	benign
rs202246678	11:71,208,625	G/A	—	uncertain significance
rs2539290367	11:71,208,643	T/C	—	uncertain significance
rs11540018	11:71,208,651	G/A	—	benign
rs140136569	11:71,209,388	C/T	—	benign
rs756392167	11:71,209,401	G/A	—	uncertain significance
rs200903617	11:71,209,470	G/A	—	uncertain significance
rs751363139	11:71,209,471	C/T	—	uncertain significance
rs2539291263	11:71,209,525	T/C	—	uncertain significance
rs764693513	11:71,209,558	G/A	—	uncertain significance
rs763624750	11:71,209,576	T/C	—	uncertain significance
rs749002578	11:71,212,349	T/G	—	uncertain significance

Showing 100 of 101 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.