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TAGCTCCTTTAAATGTTTGGAAAAC[A/G]GTAGTTAAGTTTCTTGGTATCACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603441 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5S PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ATP5S - ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B) | ||||||
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There are no transcripts associated with this gene. |
CDKL1 - cyclin dependent kinase like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282236.1 | 1426 | Intron | NP_001269165.1 | |||
NM_004196.4 | 1426 | Missense Mutation | CGT,TGT | R,C 354 | NP_004187.2 | |
XM_005268157.2 | 1426 | Missense Mutation | CGT,TGT | R,C 354 | XP_005268214.1 | |
XM_005268159.2 | 1426 | Missense Mutation | CGT,TGT | R,C 297 | XP_005268216.1 | |
XM_005268160.4 | 1426 | Missense Mutation | CGT,TGT | R,C 240 | XP_005268217.1 | |
XM_011537276.1 | 1426 | Missense Mutation | CGT,TGT | R,C 304 | XP_011535578.1 | |
XM_017021729.1 | 1426 | Missense Mutation | CGT,TGT | R,C 354 | XP_016877218.1 | |
XM_017021730.1 | 1426 | Missense Mutation | CGT,TGT | R,C 297 | XP_016877219.1 | |
XM_017021731.1 | 1426 | Missense Mutation | CGT,TGT | R,C 297 | XP_016877220.1 | |
XM_017021732.1 | 1426 | UTR 3 | XP_016877221.1 |