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GCCACAGCCACGATCATGGTAGGGC[A/C]AGCCTCAACCTCTATGGCTTTAGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607031 MIM: 603686 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LIAS 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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LIAS - lipoic acid synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278590.1 | 401 | Intron | NP_001265519.1 | |||
NM_001278591.1 | 401 | Missense Mutation | CAA,CCA | Q,P 134 | NP_001265520.1 | |
NM_001278592.1 | 401 | UTR 3 | NP_001265521.1 | |||
NM_006859.3 | 401 | Intron | NP_006850.2 | |||
NM_194451.2 | 401 | Intron | NP_919433.1 | |||
XM_006713990.3 | 401 | Intron | XP_006714053.1 | |||
XM_017007665.1 | 401 | Intron | XP_016863154.1 | |||
XM_017007666.1 | 401 | Intron | XP_016863155.1 | |||
XM_017007667.1 | 401 | Intron | XP_016863156.1 |
RPL9 - ribosomal protein L9 | ||||||
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There are no transcripts associated with this gene. |