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SNP ID

rs137853247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120978860 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAGGCACTGATCCAGGCACTGG[A/G]TGAGCCGGGGCCCTACCTCCTGGCT

Phenotype

MIM: 142410

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HNF1A PubMed Links

Gene Details

Gene

HNF1A

Gene Name

HNF1 homeobox A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000545.6	293	Missense Mutation	GAT,GGT	D31G	NP_000536.5
NM_001306179.1	293	Missense Mutation	GAT,GGT	D31G	NP_001293108.1
XM_005253931.3	293	Missense Mutation	GAT,GGT	D31G	XP_005253988.1

Gene

HNF1A-AS1

Gene Name

HNF1A antisense RNA 1

There are no transcripts associated with this gene.

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