Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCAGCCCAGCCACTCACCATTCCC[A/G]TCAGCAGTTCATACAGTAGAGACCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 126063 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DLST 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
|
DLST - dihydrolipoamide S-succinyltransferase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
RPS6KL1 - ribosomal protein S6 kinase like 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031464.4 | 1559 | Missense Mutation | ACG,ATG | T,M 479 | NP_113652.2 | |
XM_011537206.2 | 1559 | Missense Mutation | ACG,ATG | T,M 495 | XP_011535508.1 | |
XM_011537207.2 | 1559 | Missense Mutation | ACG,ATG | T,M 495 | XP_011535509.1 | |
XM_011537211.2 | 1559 | Missense Mutation | ACG,ATG | T,M 448 | XP_011535513.1 | |
XM_011537213.2 | 1559 | Missense Mutation | ACG,ATG | T,M 432 | XP_011535515.1 | |
XM_017021680.1 | 1559 | Missense Mutation | ACG,ATG | T,M 495 | XP_016877169.1 | |
XM_017021681.1 | 1559 | Missense Mutation | ACG,ATG | T,M 479 | XP_016877170.1 | |
XM_017021682.1 | 1559 | Missense Mutation | ACG,ATG | T,M 479 | XP_016877171.1 | |
XM_017021683.1 | 1559 | Missense Mutation | ACG,ATG | T,M 465 | XP_016877172.1 | |
XM_017021684.1 | 1559 | Missense Mutation | ACG,ATG | T,M 495 | XP_016877173.1 | |
XM_017021685.1 | 1559 | Missense Mutation | ACG,ATG | T,M 495 | XP_016877174.1 | |
XM_017021686.1 | 1559 | UTR 3 | XP_016877175.1 | |||
XM_017021687.1 | 1559 | UTR 3 | XP_016877176.1 | |||
XM_017021688.1 | 1559 | Missense Mutation | ACG,ATG | T,M 293 | XP_016877177.1 | |
XM_017021689.1 | 1559 | Missense Mutation | ACG,ATG | T,M 293 | XP_016877178.1 | |
XM_017021690.1 | 1559 | Missense Mutation | ACG,ATG | T,M 277 | XP_016877179.1 | |
XM_017021691.1 | 1559 | Missense Mutation | ACG,ATG | T,M 216 | XP_016877180.1 | |
XM_017021692.1 | 1559 | Missense Mutation | ACG,ATG | T,M 263 | XP_016877181.1 |