Product Details

SNP ID
rs201423516
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81869789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGGGCCTCCTTGTACTTTCGCA[A/G]GCTCTCGTCGTCCTTGTCCAGCTCC
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_001185077.2 503 Silent Mutation CTG,TTG L48L NP_001172006.1
NM_001185078.2 503 Silent Mutation CTG,TTG L48L NP_001172007.1
NM_001301240.1 503 Silent Mutation CTG,TTG L48L NP_001288169.1
NM_001301241.1 503 Silent Mutation CTG,TTG L48L NP_001288170.1
NM_001301242.1 503 Silent Mutation CTG,TTG L48L NP_001288171.1
NM_001301243.1 503 Silent Mutation CTG,TTG L48L NP_001288172.1
NM_004309.5 503 Silent Mutation CTG,TTG L48L NP_004300.1
XM_011523574.1 503 Silent Mutation CTG,TTG L48L XP_011521876.1
Gene
P4HB
Gene Name
prolyl 4-hydroxylase subunit beta
There are no transcripts associated with this gene.

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