Product Details

SNP ID
rs150621218
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109088396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCTTTTCCCACGGGAATCCTTA[C/T]GCCGGAAGACAAAGTCTCTGCAGGC
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_001001655.2 989 Missense Mutation CAT,CGT H199R NP_001001655.1
NM_001145374.1 989 Missense Mutation CAT,CGT H199R NP_001138846.1
NM_001145375.1 989 Missense Mutation CAT,CGT H199R NP_001138847.1
NM_001205179.1 989 Missense Mutation ATA,GTA I133V NP_001192108.1
NM_001205180.1 989 Missense Mutation ATA,GTA I133V NP_001192109.1
XM_005253835.4 989 Missense Mutation CAT,CGT H199R XP_005253892.1
XM_005253836.1 989 Missense Mutation ATA,GTA I133V 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_001301175.1 989 Intron NP_001288104.1
NM_032663.4 989 Intron NP_116052.2
XM_005253962.3 989 Intron XP_005254019.1
XM_005253965.4 989 Intron XP_005254022.1
XM_006719653.3 989 Intron XP_006719716.1
XM_011538894.2 989 Intron XP_011537196.1
XM_017020048.1 989 Intron XP_016875537.1
XM_017020049.1 989 Intron XP_016875538.1
XM_017020050.1 989 Intron XP_016875539.1
XM_017020051.1 989 Intron XP_016875540.1
XM_017020052.1 989 Intron XP_016875541.1
XM_017020053.1 989 Intron XP_016875542.1
XM_017020054.1 989 Intron XP_016875543.1

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