Product Details

SNP ID
rs1057284
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81868837 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGGGACACATCCGCCTGTCCGTC[G/T]TCCGTCCGTCAGTCTGCCCTGCCCG
Phenotype
MIM: 601925 MIM: 176790
Polymorphism
G/T, Transversion 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 1150 UTR 3 NP_001172006.1
NM_001185078.2 1150 UTR 3 NP_001172007.1
NM_001301240.1 1150 Intron NP_001288169.1
NM_001301241.1 1150 Intron NP_001288170.1
NM_001301242.1 1150 Missense Mutation AAG,ACG K181T NP_001288171.1
NM_001301243.1 1150 UTR 3 NP_001288172.1
NM_004309.5 1150 UTR 3 NP_004300.1
XM_011523574.1 1150 UTR 3 XP_011521876.1
Gene
P4HB
Gene Name
prolyl 4-hydroxylase subunit beta
There are no transcripts associated with this gene.

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