Product Details

SNP ID

rs117704204

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6934498 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTAGAGGAAGCCTCCACCCCAAAG[G/T]TCAACAAGCAGGGTCGGAGTGAGGA

Phenotype

MIM: 607462 MIM: 615140

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATN1 PubMed Links

Gene Details

Gene

ATN1

Gene Name

atrophin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007026.1	429	Missense Mutation	GTC,TTC	V67F	NP_001007027.1
NM_001940.3	429	Missense Mutation	GTC,TTC	V67F	NP_001931.2

Gene

C12orf57

Gene Name

chromosome 12 open reading frame 57

There are no transcripts associated with this gene.

Gene

RNU7-1

Gene Name

RNA, U7 small nuclear 1

There are no transcripts associated with this gene.

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