Product Details

SNP ID: rs11547853
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:6951683 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCCGAGGTGTCCACGGTAGCTTCC[C/T]GGCTCGGCCCAGTCGCAAGAACCAG
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

There are no transcripts associated with this gene.

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	238	Missense Mutation	CCG,CTG	P28L	NP_002822.2
NM_080548.4	238	Missense Mutation	CCG,CTG	P30L	NP_536858.1
NM_080549.3	238	Missense Mutation	CCG,CTG	P28L	NP_536859.1
XM_006718994.1	238	UTR 5			XP_006719057.1
XM_011520988.1	238	Missense Mutation	CCG,CTG	P30L	XP_011519290.1

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

There are no transcripts associated with this gene.

View Full Product Details