Product Details

SNP ID
rs200068719
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154678199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTCATACTTTGGATTGCCTTTC[A/C]TCCGTCCACTCCTGTTTTGTGCTCT
Phenotype
MIM: 300482
Polymorphism
A/C, Transversion 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 1768 Missense Mutation GAG,GAT E581D NP_001075042.1
NM_001282283.1 1768 Missense Mutation GAG,GAT E542D NP_001269212.1
NM_080612.3 1768 Missense Mutation GAG,GAT E580D NP_542179.1
XM_005274648.1 1768 Missense Mutation GAG,GAT E581D XP_005274705.1
XM_006724804.1 1768 Missense Mutation GAG,GAT E581D XP_006724867.1
XM_011531103.1 1768 Missense Mutation GAG,GAT E581D XP_011529405.1
XM_011531105.1 1768 Missense Mutation GAG,GAT E581D XP_011529407.1
XM_011531106.1 1768 Missense Mutation GAG,GAT E542D XP_011529408.1
XM_017029276.1 1768 Missense Mutation GAG,GAT E581D XP_016884765.1

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