Product Details

SNP ID
rs142704657
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:35660645 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCCAGCTGGACCCCCTTTTTGA[G/T]CGGTGAGGAGAGCAATGATTCTGTG
Phenotype
MIM: 157660 MIM: 604964
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARHGEF39 PubMed Links

Gene Details

Gene
ARHGEF39
Gene Name
Rho guanine nucleotide exchange factor 39
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032818.2 2109 UTR 3 NP_116207.2
XM_011518057.2 2109 UTR 3 XP_011516359.1
XM_017015225.1 2109 UTR 3 XP_016870714.1
XM_017015226.1 2109 Intron XP_016870715.1
XM_017015227.1 2109 UTR 3 XP_016870716.1
XM_017015228.1 2109 Intron XP_016870717.1
Gene
CCDC107
Gene Name
coiled-coil domain containing 107
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195200.1 2109 Missense Mutation GAG,GAT E136D NP_001182129.1
NM_001195201.1 2109 Missense Mutation GAG,GAT E136D NP_001182130.1
NM_001195217.1 2109 Missense Mutation GAG,GAT E136D NP_001182146.1
NM_174923.2 2109 Missense Mutation GAG,GAT E136D NP_777583.2
XM_005251403.4 2109 Missense Mutation GAG,GAT E136D XP_005251460.1
Gene
RMRP
Gene Name
RNA component of mitochondrial RNA processing endoribonuclease
There are no transcripts associated with this gene.

Gene
SIT1
Gene Name
signaling threshold regulating transmembrane adaptor 1
There are no transcripts associated with this gene.

View Full Product Details