Product Details

SNP ID

rs116754368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31465549 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGACCGGTGGAGGTTTCAATGCA[C/T]AGGAGAGACAGCACAGGGACGCATC

Phenotype

MIM: 610388

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DEFB124 PubMed Links

Gene Details

Gene

DEFB124

Gene Name

defensin beta 124

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037500.1	790	Missense Mutation	TAT,TGT	Y58C	NP_001032589.1
XM_017027782.1	790	Missense Mutation	TAT,TGT	Y75C	XP_016883271.1

Gene

REM1

Gene Name

RRAD and GEM like GTPase 1

There are no transcripts associated with this gene.

View Full Product Details