Product Details

SNP ID
rs142500906
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:38708920 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGTGGGAGAGGATGGACGAGGGA[A/T]GCGGAGAGACCATATATGTCATTGG
Phenotype
MIM: 602245 MIM: 615323
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GTPBP1 PubMed Links

Gene Details

Gene
GTPBP1
Gene Name
GTP binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004286.4 1646 Missense Mutation AGC,TGC S90C NP_004277.2
XM_011530537.2 1646 Missense Mutation AGC,TGC S90C XP_011528839.1
XM_017029099.1 1646 Missense Mutation AGC,TGC S90C XP_016884588.1
XM_017029100.1 1646 Missense Mutation AGC,TGC S90C XP_016884589.1
XM_017029101.1 1646 Missense Mutation GAA,GAT E15D XP_016884590.1
XM_017029102.1 1646 Intron XP_016884591.1
XM_017029103.1 1646 Intron XP_016884592.1
Gene
JOSD1
Gene Name
Josephin domain containing 1
There are no transcripts associated with this gene.

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