Product Details

SNP ID

rs1048596

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6952106 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTACTACACTCAGCAGCAGGGTGT[C/G]CTGCAGGACCGCGACGGCACCATCA

Phenotype

MIM: 607462 MIM: 615140 MIM: 176883

Polymorphism

C/G, Transversion 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	410	Silent Mutation	GTC,GTG	V85V	NP_002822.2
NM_080548.4	410	Silent Mutation	GTC,GTG	V87V	NP_536858.1
NM_080549.3	410	Silent Mutation	GTC,GTG	V85V	NP_536859.1
XM_006718994.1	410	UTR 5			XP_006719057.1
XM_011520988.1	410	Silent Mutation	GTC,GTG	V87V	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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