Product Details

SNP ID
rs146439705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:110459859 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATCCACCTCGATCAGTTCCCGG[A/G]TGTCTGAAAAGGACAGATAGGGCCC
Phenotype
MIM: 604225
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARPC3 PubMed Links

Gene Details

Gene
ARPC3
Gene Name
actin related protein 2/3 complex subunit 3
There are no transcripts associated with this gene.

Gene
FAM216A
Gene Name
family with sequence similarity 216 member A
There are no transcripts associated with this gene.

Gene
GPN3
Gene Name
GPN-loop GTPase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164372.1 697 Missense Mutation ACC,ATC T93I NP_001157844.1
NM_001164373.1 697 Missense Mutation ACC,ATC T64I NP_001157845.1
NM_016301.3 697 Missense Mutation ACC,ATC T54I NP_057385.3
XM_005253896.4 697 Missense Mutation ACC,ATC T227I XP_005253953.3
XM_017019394.1 697 Missense Mutation ACC,ATC T32I XP_016874883.1

View Full Product Details