Product Details

SNP ID

rs199555246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45552112 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTCCTCATCCTGCAGGCACTTGG[G/T]TTTATCAATCTTGGTACATAGCAAG

Phenotype

MIM: 609031

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EPPIN PubMed Links

Gene Details

Gene

EPPIN

Gene Name

epididymal peptidase inhibitor

There are no transcripts associated with this gene.

Gene

EPPIN-WFDC6

Gene Name

EPPIN-WFDC6 readthrough

There are no transcripts associated with this gene.

Gene

WFDC8

Gene Name

WAP four-disulfide core domain 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130896.2	719	Missense Mutation	ACC,CCC	T214P	NP_570966.2
NM_181510.2	719	Intron			NP_852611.2
XM_017028119.1	719	UTR 3			XP_016883608.1

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