Product Details

SNP ID

rs201134554

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:59835918 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGAGCAGCTCAACCCCCCTCAG[C/G]TGGTTATTTATGGTGTATATGACAG

Phenotype

MIM: 609342

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GIF PubMed Links

Gene Details

Gene

GIF

Gene Name

gastric intrinsic factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005142.2	997	Missense Mutation	CAC,CAG	H321Q	NP_005133.2
XM_011544939.2	997	Missense Mutation	CAC,CAG	H307Q	XP_011543241.1

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