Product Details

SNP ID

rs140112104

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71850466 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCTACCTGCTGGGTATACTTT[G/T]CATGAAACCCCTCCAGCAGGTGCCA

Phenotype

MIM: 614301

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATXN1L PubMed Links

Gene Details

Gene

ATXN1L

Gene Name

ataxin 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001137675.3	1019	Missense Mutation	TTG,TTT	L242F	NP_001131147.1

Gene

ZNF821

Gene Name

zinc finger protein 821

There are no transcripts associated with this gene.

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