Product Details

SNP ID

rs192367948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:74538550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGATCCTAGCATTTAAAAACCCA[A/G]AGTGGATAATTTAGGAATCCTTTTT

Phenotype

MIM: 615579

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATXN7L3B PubMed Links

Gene Details

Gene

ATXN7L3B

Gene Name

ataxin 7 like 3B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136262.1	780	UTR 3			NP_001129734.1

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