Product Details

SNP ID
rs192362004
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154680238 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACTGCTCAGGGAACTGGCTGTT[C/T]GGTGCTCCTCCTAGGAACCAACATC
Phenotype
MIM: 300482
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GAB3 PubMed Links

Gene Details

Gene
GAB3
Gene Name
GRB2 associated binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081573.2 1566 Missense Mutation CAA,CGA Q514R NP_001075042.1
NM_001282283.1 1566 Intron NP_001269212.1
NM_080612.3 1566 Missense Mutation CAA,CGA Q513R NP_542179.1
XM_005274648.1 1566 Missense Mutation CAA,CGA Q514R XP_005274705.1
XM_006724804.1 1566 Missense Mutation CAA,CGA Q514R XP_006724867.1
XM_011531103.1 1566 Missense Mutation CAA,CGA Q514R XP_011529405.1
XM_011531105.1 1566 Missense Mutation CAA,CGA Q514R XP_011529407.1
XM_011531106.1 1566 Intron XP_011529408.1
XM_017029276.1 1566 Missense Mutation CAA,CGA Q514R XP_016884765.1

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