Product Details

SNP ID
rs147992246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141654152 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCAGCTGTTCCTCTAGGGACCCC[C/T]GTGCCTGGGGACTGCTCTTTGAAGG
Phenotype
MIM: 606647
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARAP3 PubMed Links

Gene Details

Gene
ARAP3
Gene Name
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022481.5 3930 Missense Mutation CAG,CGG Q1478R NP_071926.4
XM_005268497.1 3930 Missense Mutation CAG,CGG Q1465R XP_005268554.1
XM_005268498.1 3930 Missense Mutation CAG,CGG Q1458R XP_005268555.1
XM_005268499.1 3930 Missense Mutation CAG,CGG Q1400R XP_005268556.1
XM_005268500.3 3930 Intron XP_005268557.1
XM_006714792.1 3930 Missense Mutation CAG,CGG Q1407R XP_006714855.1
XM_011537677.2 3930 Missense Mutation CAG,CGG Q1283R XP_011535979.1
Gene
FCHSD1
Gene Name
FCH and double SH3 domains 1
There are no transcripts associated with this gene.

View Full Product Details