Product Details

SNP ID
rs200594471
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109090014 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACTAAACAGGGTGTCACCTGTT[C/G]ATGAGCACAAAGTTGAAGGTCTGTC
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_001001655.2 867 Missense Mutation ATC,ATG I158M NP_001001655.1
NM_001145374.1 867 Missense Mutation ATC,ATG I158M NP_001138846.1
NM_001145375.1 867 Missense Mutation ATC,ATG I158M NP_001138847.1
NM_001205179.1 867 Intron NP_001192108.1
NM_001205180.1 867 Intron NP_001192109.1
XM_005253835.4 867 Missense Mutation ATC,ATG I158M XP_005253892.1
XM_005253836.1 867 Intron 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
There are no transcripts associated with this gene.

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