Product Details

SNP ID
rs151042541
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81868903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCCTTCCAGTCCTTCTTGATGGT[A/G]AGATTCCACTCCCAGGACAGGTGGT
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 1084 Silent Mutation CTC,CTT L196L NP_001172006.1
NM_001185078.2 1084 Silent Mutation CTC,CTT L152L NP_001172007.1
NM_001301240.1 1084 Intron NP_001288169.1
NM_001301241.1 1084 Intron NP_001288170.1
NM_001301242.1 1084 Missense Mutation TCA,TTA S159L NP_001288171.1
NM_001301243.1 1084 Silent Mutation CTC,CTT L241L NP_001288172.1
NM_004309.5 1084 Silent Mutation CTC,CTT L196L NP_004300.1
XM_011523574.1 1084 Silent Mutation CTC,CTT L241L XP_011521876.1
Gene
P4HB
Gene Name
prolyl 4-hydroxylase subunit beta
There are no transcripts associated with this gene.

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