Product Details

SNP ID
rs202169635
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:14942530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGGGGTGGATGCATTCATTCTG[C/T]CCACTCCTTCTTAATCGACAGGTTC
Phenotype
MIM: 602843 MIM: 610642
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGDIB PubMed Links

Gene Details

Gene
ARHGDIB
Gene Name
Rho GDP dissociation inhibitor beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001175.6 711 Missense Mutation ACA,GCA T200A NP_001166.3
NM_001321420.1 711 Missense Mutation ACA,GCA T200A NP_001308349.1
NM_001321421.1 711 Missense Mutation ACA,GCA T200A NP_001308350.1
NM_001321422.1 711 Missense Mutation ACA,GCA T200A NP_001308351.1
NM_001321423.1 711 Missense Mutation ACA,GCA T200A NP_001308352.1
Gene
ERP27
Gene Name
endoplasmic reticulum protein 27
There are no transcripts associated with this gene.

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