Product Details

SNP ID
rs14670
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:38736284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCAGGGCTAGTGGGCGGGCTCCC[A/C]ATGCACTCTGAAGCGGTAGATGCAG
Phenotype
MIM: 602245 MIM: 613569
Polymorphism
A/C, 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 2155 Intron NP_004277.2
XM_011530537.2 2155 Intron XP_011528839.1
XM_017029099.1 2155 Intron XP_016884588.1
XM_017029100.1 2155 Intron XP_016884589.1
XM_017029101.1 2155 Intron XP_016884590.1
XM_017029102.1 2155 Intron XP_016884591.1
XM_017029103.1 2155 Intron XP_016884592.1
Gene
SUN2
Gene Name
Sad1 and UNC84 domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199579.1 2155 Missense Mutation GGG,TGG G734W NP_001186508.1
NM_001199580.1 2155 Missense Mutation GGG,TGG G713W NP_001186509.1
NM_015374.2 2155 Missense Mutation GGG,TGG G713W NP_056189.1
XM_011530104.2 2155 Missense Mutation GGG,TGG G667W XP_011528406.1
XM_011530105.2 2155 Missense Mutation GGG,TGG G702W XP_011528407.1
XM_017028748.1 2155 Intron XP_016884237.1

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