Product Details

SNP ID
rs1803929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:14942689 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTCATACTCCTCAGGCCGAGGTC[A/C]ATAGCTGCCAACCATAAATGTTGCT
Phenotype
MIM: 602843 MIM: 610642
Polymorphism
A/C, Transversion 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_001175.6 552 Nonsense Mutation GGA,TGA G147* NP_001166.3
NM_001321420.1 552 Nonsense Mutation GGA,TGA G147* NP_001308349.1
NM_001321421.1 552 Nonsense Mutation GGA,TGA G147* NP_001308350.1
NM_001321422.1 552 Nonsense Mutation GGA,TGA G147* NP_001308351.1
NM_001321423.1 552 Nonsense Mutation GGA,TGA G147* NP_001308352.1
Gene
ERP27
Gene Name
endoplasmic reticulum protein 27
There are no transcripts associated with this gene.

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