Product Details

SNP ID

rs148577927

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:6870722 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTCCCTCTGTAACAGGTGCCTT[A/G]AATTTTGGTAAAGATCGGGCAGGCA

Phenotype

MIM: 602056

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DEFB1 PubMed Links

Gene Details

Gene

DEFB1

Gene Name

defensin beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005218.3	316	Nonsense Mutation	CAA,TAA	Q56*	NP_005209.1

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