Product Details

SNP ID
rs1888871
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:32886641 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCCCAGCCCTTCAGATTGATGTTCA[A/G]ATCAGCTTGGGTCTAGTCTCTGGCT
Phenotype
MIM: 606350
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
APTX PubMed Links

Gene Details

Gene
APTX
Gene Name
aprataxin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195248.1 1750 Intron NP_001182177.1
NM_001195249.1 1750 Intron NP_001182178.1
NM_001195250.1 1750 Intron NP_001182179.1
NM_001195251.1 1750 Intron NP_001182180.1
NM_001195252.1 1750 Intron NP_001182181.1
NM_001195254.1 1750 Intron NP_001182183.1
NM_175069.2 1750 Intron NP_778239.1
NM_175073.2 1750 Intron NP_778243.1
XM_006716791.3 1750 Intron XP_006716854.1
XM_006716792.2 1750 Intron XP_006716855.1
XM_011517938.1 1750 Intron XP_011516240.1
XM_011517939.2 1750 Intron XP_011516241.1
XM_017014831.1 1750 UTR 3 XP_016870320.1
XM_017014832.1 1750 Intron XP_016870321.1
XM_017014833.1 1750 Intron XP_016870322.1
XM_017014834.1 1750 Intron XP_016870323.1
XM_017014835.1 1750 Intron XP_016870324.1
XM_017014836.1 1750 Intron XP_016870325.1
XM_017014837.1 1750 Intron XP_016870326.1
XM_017014838.1 1750 Intron XP_016870327.1

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