Product Details

SNP ID

rs138190342

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:77674134 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGAGGGACTGCGTGGTTCAAGAGG[C/T]GGCTGAAACCCGACATTATCATGAT

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	857	Missense Mutation	CAC,CGC	H283R	NP_006011.2

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