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GCACTGTAATCAACTTCTTCAAGGA[A/G]TCGAGGTTCATCTTCATCCAAGACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606830 | ||||||||||||||||||||
Literature Links: |
AGTPBP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AGTPBP1 - ATP/GTP binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286715.1 | 3642 | Missense Mutation | CTC,TTC | L,F 1233 | NP_001273644.1 | |
NM_001286717.1 | 3642 | Missense Mutation | CTC,TTC | L,F 1193 | NP_001273646.1 | |
NM_015239.2 | 3642 | Missense Mutation | CTC,TTC | L,F 1141 | NP_056054.2 | |
XM_005251847.3 | 3642 | Missense Mutation | CTC,TTC | L,F 1181 | XP_005251904.1 | |
XM_005251848.2 | 3642 | Missense Mutation | CTC,TTC | L,F 1181 | XP_005251905.1 | |
XM_005251849.3 | 3642 | Missense Mutation | CTC,TTC | L,F 1063 | XP_005251906.1 | |
XM_011518418.2 | 3642 | Intron | XP_011516720.1 | |||
XM_011518420.2 | 3642 | Missense Mutation | CTC,TTC | L,F 826 | XP_011516722.1 | |
XM_011518421.2 | 3642 | Intron | XP_011516723.1 | |||
XM_017014544.1 | 3642 | Missense Mutation | CTC,TTC | L,F 1181 | XP_016870033.1 | |
XM_017014545.1 | 3642 | Intron | XP_016870034.1 | |||
XM_017014546.1 | 3642 | Missense Mutation | CTC,TTC | L,F 1023 | XP_016870035.1 | |
XM_017014547.1 | 3642 | Intron | XP_016870036.1 | |||
XM_017014548.1 | 3642 | Missense Mutation | CTC,TTC | L,F 916 | XP_016870037.1 | |
XM_017014549.1 | 3642 | Intron | XP_016870038.1 | |||
XM_017014550.1 | 3642 | Intron | XP_016870039.1 |
LOC101927603 - uncharacterized LOC101927603 | ||||||
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There are no transcripts associated with this gene. |