Product Details

SNP ID: rs141530884
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:31476689 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGAAGGCTCCTGGGAGGCTCTCTAC[C/T]GTGTGGTGCTACTTGGAGATCCTGG
Phenotype: MIM: 610388
Polymorphism: C/T, Transition 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	542	Missense Mutation	CGT,TGT	R82C	NP_054731.2
XM_005260404.1	542	Missense Mutation	CGT,TGT	R82C	XP_005260461.1
XM_011528795.1	542	Missense Mutation	CGT,TGT	R82C	XP_011527097.1
XM_017027833.1	542	Missense Mutation	CGT,TGT	R82C	XP_016883322.1

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