Product Details

SNP ID
rs200789248
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:77674145 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGGTTCAAGAGGCGGCTGAAACC[C/T]GACATTATCATGATGTCACCACTGT
Phenotype
MIM: 605345
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALKBH1 PubMed Links

Gene Details

Gene
ALKBH1
Gene Name
alkB homolog 1, histone H2A dioxygenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006020.2 846 Silent Mutation TCA,TCG S279S NP_006011.2

View Full Product Details