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SNP ID: rs144915095
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:6945869 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGAAGGCGCTGTTTCTGCCGCCC[A/G]TGACCCTGCCACCCCATGGGCCTGC
Phenotype: MIM: 607462 MIM: 615140 MIM: 176883
Polymorphism: A/G, 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	633	Missense Mutation	ATG,GTG	M110V	NP_001288763.1
NM_001301836.1	633	Missense Mutation	ATG,GTG	M97V	NP_001288765.1
NM_001301837.1	633	Missense Mutation	ATG,GTG	M81V	NP_001288766.1
NM_001301838.1	633	Missense Mutation	ATG,GTG	M75V	NP_001288767.1
NM_138425.3	633	Missense Mutation	ATG,GTG	M110V	NP_612434.1

Gene: PTPN6
Gene Name: protein tyrosine phosphatase, non-receptor type 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002831.5	633	Intron			NP_002822.2
NM_080548.4	633	Intron			NP_536858.1
NM_080549.3	633	Intron			NP_536859.1
XM_006718994.1	633	Intron			XP_006719057.1
XM_011520988.1	633	Intron			XP_011519290.1

Gene: RNU7-1
Gene Name: RNA, U7 small nuclear 1

There are no transcripts associated with this gene.

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