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TCTGGTGATCTTGCAGACAGGAGCA[C/T]CTGGGATGAATATAAAGGAAACCTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611135 MIM: 607031 MIM: 603686 | ||||||||||||||||||||
Literature Links: |
KLB 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 |
KLB - klotho beta | ||||||
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There are no transcripts associated with this gene. |
LIAS - lipoic acid synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278590.1 | 267 | Missense Mutation | ACC,ATC | T,I 58 | NP_001265519.1 | |
NM_001278591.1 | 267 | Missense Mutation | ACC,ATC | T,I 58 | NP_001265520.1 | |
NM_001278592.1 | 267 | Missense Mutation | ACC,ATC | T,I 58 | NP_001265521.1 | |
NM_006859.3 | 267 | Missense Mutation | ACC,ATC | T,I 58 | NP_006850.2 | |
NM_194451.2 | 267 | Missense Mutation | ACC,ATC | T,I 58 | NP_919433.1 | |
XM_006713990.3 | 267 | Missense Mutation | ACC,ATC | T,I 58 | XP_006714053.1 | |
XM_017007665.1 | 267 | Missense Mutation | ACC,ATC | T,I 58 | XP_016863154.1 | |
XM_017007666.1 | 267 | Missense Mutation | ACC,ATC | T,I 58 | XP_016863155.1 | |
XM_017007667.1 | 267 | Missense Mutation | ACC,ATC | T,I 58 | XP_016863156.1 |
RPL9 - ribosomal protein L9 | ||||||
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There are no transcripts associated with this gene. |