Product Details

SNP ID
rs144639687
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109088307 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGGTACCAGTGCGTGTTGGTCG[C/G]GTGGTTCATCATTAGTAAGCTCCCG
Phenotype
MIM: 610602 MIM: 191525 MIM: 612492
Polymorphism
C/G, Transversion 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 1078 Missense Mutation CCG,GCG P229A NP_001001655.1
NM_001145374.1 1078 Missense Mutation CCG,GCG P229A NP_001138846.1
NM_001145375.1 1078 Missense Mutation CCG,GCG P229A NP_001138847.1
NM_001205179.1 1078 UTR 3 NP_001192108.1
NM_001205180.1 1078 UTR 3 NP_001192109.1
XM_005253835.4 1078 Missense Mutation CCG,GCG P229A XP_005253892.1
XM_005253836.1 1078 UTR 3 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 1078 Intron NP_001288104.1
NM_032663.4 1078 Intron NP_116052.2
XM_005253962.3 1078 Intron XP_005254019.1
XM_005253965.4 1078 Intron XP_005254022.1
XM_006719653.3 1078 Intron XP_006719716.1
XM_011538894.2 1078 Intron XP_011537196.1
XM_017020048.1 1078 Intron XP_016875537.1
XM_017020049.1 1078 Intron XP_016875538.1
XM_017020050.1 1078 Intron XP_016875539.1
XM_017020051.1 1078 Intron XP_016875540.1
XM_017020052.1 1078 Intron XP_016875541.1
XM_017020053.1 1078 Intron XP_016875542.1
XM_017020054.1 1078 Intron XP_016875543.1

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