Product Details

SNP ID
rs140148902
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27647867 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCTCCTGTGCTGCACCCTTCTGA[G/T]TTGATCCTGACTCGAGGAACCTTGG
Phenotype
MIM: 611479 MIM: 612762
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GPN1 PubMed Links

Gene Details

Gene
GPN1
Gene Name
GPN-loop GTPase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145047.1 1026 Missense Mutation GAG,GAT E309D NP_001138519.1
NM_001145048.1 1026 Missense Mutation GAG,GAT E242D NP_001138520.1
NM_001145049.1 1026 Missense Mutation GAG,GAT E226D NP_001138521.1
NM_007266.3 1026 Missense Mutation GAG,GAT E335D NP_009197.2
Gene
SUPT7L
Gene Name
SPT7-like STAGA complex gamma subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282729.1 1026 Intron NP_001269658.1
NM_001282730.1 1026 Intron NP_001269659.1
NM_001282731.1 1026 Intron NP_001269660.1
NM_001282732.1 1026 Intron NP_001269661.1
NM_014860.2 1026 Intron NP_055675.1
XM_005264672.4 1026 Intron XP_005264729.1

View Full Product Details