Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGATAATTCAGAGTCAGAAAGTAC[G/T]TCTTCTTGAGCAGAAGGTTCATAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606830 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AGTPBP1 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
|
AGTPBP1 - ATP/GTP binding protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286715.1 | 3740 | Missense Mutation | GAA,GAC | E,D 1265 | NP_001273644.1 | |
NM_001286717.1 | 3740 | Missense Mutation | GAA,GAC | E,D 1225 | NP_001273646.1 | |
NM_015239.2 | 3740 | Missense Mutation | GAA,GAC | E,D 1173 | NP_056054.2 | |
XM_005251847.3 | 3740 | Missense Mutation | GAA,GAC | E,D 1213 | XP_005251904.1 | |
XM_005251848.2 | 3740 | Missense Mutation | GAA,GAC | E,D 1213 | XP_005251905.1 | |
XM_005251849.3 | 3740 | Missense Mutation | GAA,GAC | E,D 1095 | XP_005251906.1 | |
XM_011518418.2 | 3740 | Intron | XP_011516720.1 | |||
XM_011518420.2 | 3740 | Missense Mutation | GAA,GAC | E,D 858 | XP_011516722.1 | |
XM_011518421.2 | 3740 | Intron | XP_011516723.1 | |||
XM_017014544.1 | 3740 | Missense Mutation | GAA,GAC | E,D 1213 | XP_016870033.1 | |
XM_017014545.1 | 3740 | Intron | XP_016870034.1 | |||
XM_017014546.1 | 3740 | Missense Mutation | GAA,GAC | E,D 1055 | XP_016870035.1 | |
XM_017014547.1 | 3740 | Intron | XP_016870036.1 | |||
XM_017014548.1 | 3740 | Missense Mutation | GAA,GAC | E,D 948 | XP_016870037.1 | |
XM_017014549.1 | 3740 | Intron | XP_016870038.1 | |||
XM_017014550.1 | 3740 | Intron | XP_016870039.1 |
LOC101927603 - uncharacterized LOC101927603 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |