Product Details

SNP ID

rs185269336

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31476570 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCACAGTGCCTTCCACTCAATCCC[A/G]GCATCCCCGGCTGGGCCAATCAGCC

Phenotype

MIM: 610388

Polymorphism

A/G, 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	423	Missense Mutation	CAG,CGG	Q42R	NP_054731.2
XM_005260404.1	423	Missense Mutation	CAG,CGG	Q42R	XP_005260461.1
XM_011528795.1	423	Missense Mutation	CAG,CGG	Q42R	XP_011527097.1
XM_017027833.1	423	Missense Mutation	CAG,CGG	Q42R	XP_016883322.1

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