Product Details

SNP ID
rs190565501
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:31476772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGAAGCAAGAGAGGGACCTCCA[G/T]GAACAGCTGGGAGGTAGGGGCCATA
Phenotype
MIM: 610388
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DEFB124 PubMed Links

Gene Details

Gene
DEFB124
Gene Name
defensin beta 124
There are no transcripts associated with this gene.

Gene
LINC00028
Gene Name
long intergenic non-protein coding RNA 28
There are no transcripts associated with this gene.

Gene
REM1
Gene Name
RRAD and GEM like GTPase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014012.5 625 Silent Mutation CAG,CAT Q109H NP_054731.2
XM_005260404.1 625 Silent Mutation CAG,CAT Q109H XP_005260461.1
XM_011528795.1 625 Silent Mutation CAG,CAT Q109H XP_011527097.1
XM_017027833.1 625 Missense Mutation CAG,CAT Q109H XP_016883322.1

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