Product Details

SNP ID
rs200167248
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:109484006 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAATGGCCGCTCTGGAGCGGCGGG[G/T]GCCGAGTCTCGATGACTTCGCGGGA
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ATXN7L2 PubMed Links

Gene Details

Gene
ATXN7L2
Gene Name
ataxin 7 like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153340.4 68 Missense Mutation GGG,GTG G18V NP_699171.3
XM_005270445.3 68 Missense Mutation GGG,GTG G18V XP_005270502.1
XM_005270446.2 68 Missense Mutation GGG,GTG G18V XP_005270503.1
XM_011540638.2 68 Missense Mutation GGG,GTG G18V XP_011538940.1
XM_011540639.2 68 Intron XP_011538941.1
XM_011540641.2 68 Intron XP_011538943.1
XM_011540644.2 68 Intron XP_011538946.1
XM_011540645.1 68 UTR 5 XP_011538947.1
XM_011540646.2 68 Missense Mutation GGG,GTG G18V XP_011538948.1
XM_017000267.1 68 Intron XP_016855756.1
XM_017000268.1 68 Intron XP_016855757.1
XM_017000269.1 68 Intron XP_016855758.1
XM_017000270.1 68 UTR 5 XP_016855759.1
Gene
CYB561D1
Gene Name
cytochrome b561 family member D1
There are no transcripts associated with this gene.

Gene
SYPL2
Gene Name
synaptophysin like 2
There are no transcripts associated with this gene.

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