Product Details

SNP ID
rs200579789
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144530534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGCGCGGGTCGTCGGACTGGCAG[C/G]GCAAGCAGTTGGGCGCCATCACCAT
Phenotype
MIM: 615880
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP39 PubMed Links

Gene Details

Gene
ARHGAP39
Gene Name
Rho GTPase activating protein 39
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308207.1 3499 Missense Mutation CCC,CGC P1047R NP_001295136.1
NM_001308208.1 3499 Missense Mutation CCC,CGC P1047R NP_001295137.1
NM_025251.2 3499 Missense Mutation CCC,CGC P1078R NP_079527.1
XM_011517308.1 3499 Missense Mutation CCC,CGC P1078R XP_011515610.1
XM_011517309.1 3499 Missense Mutation CCC,CGC P1078R XP_011515611.1
XM_011517312.2 3499 Missense Mutation CCC,CGC P921R XP_011515614.1
XM_017013870.1 3499 Missense Mutation CCC,CGC P1078R XP_016869359.1
XM_017013871.1 3499 Missense Mutation CCC,CGC P1078R XP_016869360.1
Gene
C8orf82
Gene Name
chromosome 8 open reading frame 82
There are no transcripts associated with this gene.

Gene
LRRC14
Gene Name
leucine rich repeat containing 14
There are no transcripts associated with this gene.

Gene
LRRC24
Gene Name
leucine rich repeat containing 24
There are no transcripts associated with this gene.

View Full Product Details