Product Details

SNP ID: rs200045972
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:81912552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCTGCTTCTGCACAGCGACTTCCGA[C/T]TGTGGCTGCCTTCTTCACCAGCACG
Phenotype: MIM: 602020 MIM: 607996 MIM: 602679 MIM: 606212
Polymorphism: C/T, 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

There are no transcripts associated with this gene.

Gene: SIRT7
Gene Name: sirtuin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016538.2	2721	Missense Mutation	AAT,AGT	N356S	NP_057622.1
XM_006722284.2	2721	Missense Mutation	AAT,AGT	N274S	XP_006722347.1
XM_011523580.1	2721	Missense Mutation	AAT,AGT	N321S	XP_011521882.1
XM_011523581.2	2721	Missense Mutation	AAT,AGT	N285S	XP_011521883.1

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