Product Details

SNP ID

rs11547593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:84295005 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCGGCGTGGGGCCGGGCAGCTGC[A/G]GGAGGCAGATCATCCGGGCTCTGTG

Phenotype

MIM: 605322

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC105376777 PubMed Links

Gene Details

Gene

LOC105376777

Gene Name

uncharacterized LOC105376777

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011523512.2	300	Intron			XP_011521814.1

Gene

WFDC1

Gene Name

WAP four-disulfide core domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282466.1	300	Missense Mutation	AGG,GGG	R12G	NP_001269395.1
NM_001282467.1	300	Missense Mutation	AGG,GGG	R12G	NP_001269396.1
NM_021197.3	300	Missense Mutation	AGG,GGG	R12G	NP_067020.2
XM_005256079.3	300	Missense Mutation	AGG,GGG	R12G	XP_005256136.1

View Full Product Details