Product Details

SNP ID
rs139938808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6944509 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGAGGTGATCCAGGCGTTCTCCG[C/T]CCCGGAGAATGCAGTGCGCATGGAC
Phenotype
MIM: 607462 MIM: 615140 MIM: 176883
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATN1 PubMed Links

Gene Details

Gene
ATN1
Gene Name
atrophin 1
There are no transcripts associated with this gene.

Gene
C12orf57
Gene Name
chromosome 12 open reading frame 57
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301834.1 391 Missense Mutation GCC,GTC A29V NP_001288763.1
NM_001301836.1 391 Missense Mutation GCC,GTC A16V NP_001288765.1
NM_001301837.1 391 Missense Mutation GCC,GTC A29V NP_001288766.1
NM_001301838.1 391 UTR 5 NP_001288767.1
NM_138425.3 391 Missense Mutation GCC,GTC A29V NP_612434.1
Gene
PTPN6
Gene Name
protein tyrosine phosphatase, non-receptor type 6
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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