Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTTTCCTCTAGGGTGGCACTTTTA[C/T]GATCTCCAATTTAGGAATGTTTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608770 | ||||||||||||||||||||
Literature Links: |
DLAT 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 |
DLAT - dihydrolipoamide S-acetyltransferase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001931.4 | 2350 | Missense Mutation | ACG,ATG | T,M 564 | NP_001922.2 | |
XM_011542647.2 | 2350 | Missense Mutation | ACG,ATG | T,M 528 | XP_011540949.1 |
PIH1D2 - PIH1 domain containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001082619.1 | 2350 | Intron | NP_001076088.1 | |||
NM_138789.3 | 2350 | Intron | NP_620144.1 | |||
XM_011542593.2 | 2350 | Intron | XP_011540895.2 | |||
XM_017017201.1 | 2350 | Intron | XP_016872690.1 | |||
XM_017017202.1 | 2350 | Intron | XP_016872691.1 | |||
XM_017017203.1 | 2350 | Intron | XP_016872692.1 | |||
XM_017017204.1 | 2350 | Intron | XP_016872693.1 | |||
XM_017017205.1 | 2350 | Intron | XP_016872694.1 |