Product Details

SNP ID

rs199968559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:13318932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAAAATGGTGTCGACAGCGGCCT[A/G]TACTGTGCCTTCACTGATGTCATCA

Phenotype

MIM: 300920

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATXN3L PubMed Links

Gene Details

Gene

ATXN3L

Gene Name

ataxin 3 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135995.1	1468	Nonsense Mutation	CAG,TAG	Q335*	NP_001129467.1

Gene

GS1-600G8.3

Gene Name

unknown transcript

There are no transcripts associated with this gene.

View Full Product Details