Product Details

SNP ID

rs4830842

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:13318940 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTGTCGACAGCGGCCTGTACTGTG[C/T]CTTCACTGATGTCATCACTGAGATC

Phenotype

MIM: 300920

Polymorphism

C/T, 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	1460	Missense Mutation	GAC,GGC	D332G	NP_001129467.1

Gene

GS1-600G8.3

Gene Name

unknown transcript

There are no transcripts associated with this gene.

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