Product Details

SNP ID
rs200326863
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:31477891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACCACACTGGTGGTCGTGGACA[C/G]CTGGGAGGCCGAGAAACTGGTATGG
Phenotype
MIM: 610388
Polymorphism
C/G, 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_014012.5 720 Missense Mutation ACC,AGC T135S NP_054731.2
XM_005260404.1 720 Missense Mutation ACC,AGC T143S XP_005260461.1
XM_011528795.1 720 Missense Mutation ACC,AGC T141S XP_011527097.1
XM_017027833.1 720 Missense Mutation ACC,AGC T143S XP_016883322.1

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