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SNP ID

rs201004949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18184608 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAGAAGGGCCTGTACAACGAGC[A/G]CACGGTGGACCGGGCCCCACTGCGC

Phenotype

MIM: 613303 MIM: 602666

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALKBH5 PubMed Links

Gene Details

Gene

ALKBH5

Gene Name

alkB homolog 5, RNA demethylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017758.3	1056	Missense Mutation	CAC,CGC	H122R	NP_060228.3

Gene

MYO15A

Gene Name

myosin XVA

There are no transcripts associated with this gene.

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