Product Details

SNP ID
rs12507
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132261838 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACATATTCATTTGAAATAACTAAT[A/T]TTGAAAGAAGACAGGGAACTTTCTT
Phenotype
MIM: 608465
Polymorphism
A/T, Transversion 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 5373 UTR 3 NP_055861.3
XM_005272171.1 5373 UTR 3 XP_005272228.1
XM_005272172.2 5373 Intron XP_005272229.1
XM_005272173.2 5373 Intron XP_005272230.1
XM_011518404.2 5373 Intron XP_011516706.1
XM_011518405.2 5373 Intron XP_011516707.1
XM_011518406.2 5373 Intron XP_011516708.1
XM_011518407.1 5373 Intron XP_011516709.1
XM_011518408.2 5373 Intron XP_011516710.1
XM_017014495.1 5373 UTR 3 XP_016869984.1
XM_017014496.1 5373 UTR 3 XP_016869985.1
XM_017014497.1 5373 UTR 3 XP_016869986.1

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