Product Details

SNP ID

rs200648639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:16861387 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAATGAGATCACATACATACCTA[C/G]AAACATGATTCTAGGCACATATTGC

Phenotype

MIM: 609482

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AGR3 PubMed Links

Gene Details

Gene

AGR3

Gene Name

anterior gradient 3, protein disulphide isomerase family member

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_176813.4	416	Missense Mutation	CTA,GTA	L122V	NP_789783.1
XM_005249627.2	416	Missense Mutation	CTA,GTA	L122V	XP_005249684.1
XM_011515152.2	416	Missense Mutation	CTA,GTA	L122V	XP_011513454.1

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