Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATCCGCAGCTCCACCACCTGGTAC[A/G]TGGCCATCGTAGGGGCCTGGGTAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 602245 MIM: 613569 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTPBP1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
GTPBP1 - GTP binding protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004286.4 | 2075 | Intron | NP_004277.2 | |||
XM_011530537.2 | 2075 | Intron | XP_011528839.1 | |||
XM_017029099.1 | 2075 | Intron | XP_016884588.1 | |||
XM_017029100.1 | 2075 | Intron | XP_016884589.1 | |||
XM_017029101.1 | 2075 | Intron | XP_016884590.1 | |||
XM_017029102.1 | 2075 | Intron | XP_016884591.1 | |||
XM_017029103.1 | 2075 | Intron | XP_016884592.1 |
SUN2 - Sad1 and UNC84 domain containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199579.1 | 2075 | Missense Mutation | ACG,ATG | T,M 707 | NP_001186508.1 | |
NM_001199580.1 | 2075 | Missense Mutation | ACG,ATG | T,M 686 | NP_001186509.1 | |
NM_015374.2 | 2075 | Missense Mutation | ACG,ATG | T,M 686 | NP_056189.1 | |
XM_011530104.2 | 2075 | Missense Mutation | ACG,ATG | T,M 640 | XP_011528406.1 | |
XM_011530105.2 | 2075 | Missense Mutation | ACG,ATG | T,M 675 | XP_011528407.1 | |
XM_017028748.1 | 2075 | Intron | XP_016884237.1 |