Product Details

SNP ID

rs148225971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30249067 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCATGCTGGCAGGATAATGGGTT[C/T]CTGCTCTAACACAGCTAGCACCTCT

Phenotype

MIM: 602403

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BLMH PubMed Links

Gene Details

Gene

BLMH

Gene Name

bleomycin hydrolase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000386.3	1665	Missense Mutation	AAA,GAA	K440E	NP_000377.1

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