Product Details

SNP ID
rs33962311
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109088384 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CACCCTCCTGGAGGGGCTTTTCCCA[C/T]GGGAATCCTTATGCCGGAAGACAAA
Phenotype
MIM: 610602 MIM: 191525 MIM: 612492
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALKBH2 PubMed Links

Gene Details

Gene
ALKBH2
Gene Name
alkB homolog 2, alpha-ketoglutarate dependent dioxygenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001655.2 1001 Missense Mutation NP_001001655.1
NM_001145374.1 1001 Missense Mutation NP_001138846.1
NM_001145375.1 1001 Missense Mutation NP_001138847.1
NM_001205179.1 1001 Missense Mutation NP_001192108.1
NM_001205180.1 1001 Missense Mutation NP_001192109.1
XM_005253835.4 1001 Missense Mutation XP_005253892.1
XM_005253836.1 1001 Missense Mutation XP_005253893.1
Gene
UNG
Gene Name
uracil DNA glycosylase
There are no transcripts associated with this gene.

Gene
USP30
Gene Name
ubiquitin specific peptidase 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301175.1 1001 Intron NP_001288104.1
NM_032663.4 1001 Intron NP_116052.2
XM_005253962.3 1001 Intron XP_005254019.1
XM_005253965.4 1001 Intron XP_005254022.1
XM_006719653.3 1001 Intron XP_006719716.1
XM_011538894.2 1001 Intron XP_011537196.1
XM_017020048.1 1001 Intron XP_016875537.1
XM_017020049.1 1001 Intron XP_016875538.1
XM_017020050.1 1001 Intron XP_016875539.1
XM_017020051.1 1001 Intron XP_016875540.1
XM_017020052.1 1001 Intron XP_016875541.1
XM_017020053.1 1001 Intron XP_016875542.1
XM_017020054.1 1001 Intron XP_016875543.1

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