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SNP ID

rs200442958

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120979025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGAAGACTTCACGCCACCCATCC[A/T]CAAAGAGCTGGAGAACCTCAGCCCT

Phenotype

MIM: 142410

Polymorphism

A/T, Transversion 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	458	Missense Mutation	CAC,CTC	H86L	NP_000536.5
NM_001306179.1	458	Missense Mutation	CAC,CTC	H86L	NP_001293108.1
XM_005253931.3	458	Missense Mutation	CAC,CTC	H86L	XP_005253988.1

Gene

HNF1A-AS1

Gene Name

HNF1A antisense RNA 1

There are no transcripts associated with this gene.

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