Product Details

SNP ID

rs140790747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:59836001 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTTGCTGGGTAGAGTTGGTTGTA[C/G]CTCATGATCTGTGAAGGGCAAAGAG

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	914	Missense Mutation	CTA,GTA	L294V	NP_005133.2
XM_011544939.2	914	Missense Mutation	CTA,GTA	L280V	XP_011543241.1

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