Product Details

SNP ID
rs200826214
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132264283 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGAACTGCTGTCCTCCTGCTCCA[A/G]TGTCCTCTTGTCCCACCTAGAGTTC
Phenotype
MIM: 608465
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SETX PubMed Links

Gene Details

Gene
SETX
Gene Name
senataxin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015046.5 2928 Silent Mutation CTG,TTG L2664L NP_055861.3
XM_005272171.1 2928 Silent Mutation CTG,TTG L2693L XP_005272228.1
XM_005272172.2 2928 Silent Mutation CTG,TTG L2693L XP_005272229.1
XM_005272173.2 2928 Silent Mutation CTG,TTG L2693L XP_005272230.1
XM_011518404.2 2928 Silent Mutation CTG,TTG L2693L XP_011516706.1
XM_011518405.2 2928 Silent Mutation CTG,TTG L2693L XP_011516707.1
XM_011518406.2 2928 Intron XP_011516708.1
XM_011518407.1 2928 Intron XP_011516709.1
XM_011518408.2 2928 Intron XP_011516710.1
XM_017014495.1 2928 Silent Mutation CTG,TTG L2664L XP_016869984.1
XM_017014496.1 2928 Silent Mutation CTG,TTG L844L XP_016869985.1
XM_017014497.1 2928 Silent Mutation CTG,TTG L815L XP_016869986.1

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