Product Details

SNP ID

rs149490071

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:109487682 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCTCCCCCTTCTAAAGAACCTC[C/T]TGGCAGAGAGAACATCGAGATCATC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATXN7L2 PubMed Links

Gene Details

Gene

ATXN7L2

Gene Name

ataxin 7 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153340.4	593	Missense Mutation	CCT,CTT	P193L	NP_699171.3
XM_005270445.3	593	Missense Mutation	CCT,CTT	P225L	XP_005270502.1
XM_005270446.2	593	Missense Mutation	CCT,CTT	P225L	XP_005270503.1
XM_011540638.2	593	Missense Mutation	CCT,CTT	P203L	XP_011538940.1
XM_011540639.2	593	Missense Mutation	CCT,CTT	P167L	XP_011538941.1
XM_011540641.2	593	Missense Mutation	CCT,CTT	P167L	XP_011538943.1
XM_011540644.2	593	Missense Mutation	CCT,CTT	P167L	XP_011538946.1
XM_011540645.1	593	Silent Mutation	CTG,TTG	L38L	XP_011538947.1
XM_011540646.2	593	Missense Mutation	CCT,CTT	P225L	XP_011538948.1
XM_017000267.1	593	Missense Mutation	CCT,CTT	P167L	XP_016855756.1
XM_017000268.1	593	Missense Mutation	CCT,CTT	P167L	XP_016855757.1
XM_017000269.1	593	Missense Mutation	CCT,CTT	P167L	XP_016855758.1
XM_017000270.1	593	Missense Mutation	CCT,CTT	P167L	XP_016855759.1

Gene

CYB561D1

Gene Name

cytochrome b561 family member D1

There are no transcripts associated with this gene.

Gene

SYPL2

Gene Name

synaptophysin like 2

There are no transcripts associated with this gene.

View Full Product Details