Product Details

SNP ID: rs137989863
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:81912442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACGTCACTTTCTTCCTTTTTGTGC[A/G]TTTTGTGCAGCCCCTGCCAAACCAG
Phenotype: MIM: 602020 MIM: 607996 MIM: 602679 MIM: 606212
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: MAFG PubMed Links

Gene Details

Gene: MAFG
Gene Name: MAF bZIP transcription factor G

There are no transcripts associated with this gene.

Gene: NPB
Gene Name: neuropeptide B

There are no transcripts associated with this gene.

Gene: PCYT2
Gene Name: phosphate cytidylyltransferase 2, ethanolamine

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184917.2	2831	Intron			NP_001171846.1
NM_001256433.2	2831	Intron			NP_001243362.1
NM_001256434.2	2831	Intron			NP_001243363.1
NM_001256435.2	2831	Intron			NP_001243364.1
NM_001282203.1	2831	Intron			NP_001269132.1
NM_001282204.1	2831	Intron			NP_001269133.1
NM_002861.4	2831	Intron			NP_002852.1
XM_005256386.3	2831	Intron			XP_005256443.1
XM_005256387.3	2831	Intron			XP_005256444.1
XM_006722287.3	2831	Intron			XP_006722350.1
XM_017024910.1	2831	Intron			XP_016880399.1
XM_017024911.1	2831	Intron			XP_016880400.1
XM_017024912.1	2831	Intron			XP_016880401.1

Gene: SIRT7
Gene Name: sirtuin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016538.2	2831	Missense Mutation	CGC,TGC	R393C	NP_057622.1
XM_006722284.2	2831	Missense Mutation	CGC,TGC	R311C	XP_006722347.1
XM_011523580.1	2831	Missense Mutation	CGC,TGC	R358C	XP_011521882.1
XM_011523581.2	2831	Missense Mutation	CGC,TGC	R322C	XP_011521883.1

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