Product Details

SNP ID

rs200875679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41724730 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCACGACGATCTGCAGCTTGTCC[A/G]GCTGGCGGCAGGGAGGGCCCCGTGG

Phenotype

MIM: 137250 MIM: 600947

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GAST PubMed Links

Gene Details

Gene

GAST

Gene Name

gastrin

There are no transcripts associated with this gene.

Gene

HAP1

Gene Name

huntingtin associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079870.1	1768	Missense Mutation	CGG,TGG	R594W	NP_001073339.1
NM_001079871.1	1768	Missense Mutation	CGG,TGG	R586W	NP_001073340.1
NM_177977.2	1768	Missense Mutation	CGG,TGG	R611W	NP_817084.2

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