Product Details

SNP ID
rs115573742
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81868939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGGACAGGTGGTCGGTCTTGTC[A/G]TCGTCTGTGAAGCGGGACTTGATGC
Phenotype
MIM: 601925 MIM: 176790
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARHGDIA PubMed Links

Gene Details

Gene
ARHGDIA
Gene Name
Rho GDP dissociation inhibitor alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185077.2 1048 Silent Mutation GAC,GAT D184D NP_001172006.1
NM_001185078.2 1048 Silent Mutation GAC,GAT D140D NP_001172007.1
NM_001301240.1 1048 Intron NP_001288169.1
NM_001301241.1 1048 Intron NP_001288170.1
NM_001301242.1 1048 Missense Mutation ACG,ATG T147M NP_001288171.1
NM_001301243.1 1048 Silent Mutation GAC,GAT D229D NP_001288172.1
NM_004309.5 1048 Silent Mutation GAC,GAT D184D NP_004300.1
XM_011523574.1 1048 Silent Mutation GAC,GAT D229D XP_011521876.1
Gene
P4HB
Gene Name
prolyl 4-hydroxylase subunit beta
There are no transcripts associated with this gene.

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