Product Details

SNP ID

rs202025875

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:6936068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTGAAACTCACACCACCAATGAG[G/T]CAGTTCCCAACACGAAGTTCTGTTC

Phenotype

MIM: 601157 MIM: 600471

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DEFA4 PubMed Links

Gene Details

Gene

DEFA4

Gene Name

defensin alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001925.2	371	Nonsense Mutation	TGA,TGC	*82C	NP_001916.1

Gene

DEFA6

Gene Name

defensin alpha 6

There are no transcripts associated with this gene.

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