Product Details

SNP ID

rs79613472

Assay Type

Functionally tested

NCBI dbSNP Submissions

30

Location

Chr.1:109476793 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGCAGGTTGCACCGGATCCAAT[A/T]TGAGATGCCCCTCTGCGATGAAGAG

Phenotype

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ATXN7L2 PubMed Links

Gene Details

Gene

ATXN7L2

Gene Name

ataxin 7 like 2

There are no transcripts associated with this gene.

Gene

SYPL2

Gene Name

synaptophysin like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040709.1	638	Missense Mutation	TAT,TTT	Y91F	NP_001035799.1
XM_011541283.2	638	Missense Mutation	TAT,TTT	Y91F	XP_011539585.1
XM_011541284.2	638	Missense Mutation	TAT,TTT	Y91F	XP_011539586.1
XM_011541285.1	638	Missense Mutation	TAT,TTT	Y91F	XP_011539587.1

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