Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613368 MIM: 608939 MIM: 610831 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CARNS1 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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CARNS1 - carnosine synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166222.1 | 492 | Missense Mutation | ACA,CCA | T,P 137 | NP_001159694.1 | |
NM_020811.1 | 492 | Missense Mutation | ACA,CCA | T,P 14 | NP_065862.1 | |
XM_011545189.2 | 492 | Missense Mutation | ACA,CCA | T,P 137 | XP_011543491.1 | |
XM_011545191.2 | 492 | Missense Mutation | ACA,CCA | T,P 153 | XP_011543493.1 | |
XM_017018054.1 | 492 | Missense Mutation | ACA,CCA | T,P 153 | XP_016873543.1 | |
XM_017018055.1 | 492 | Missense Mutation | ACA,CCA | T,P 123 | XP_016873544.1 |
RPS6KB2 - ribosomal protein S6 kinase B2 | ||||||
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There are no transcripts associated with this gene. |
TBC1D10C - TBC1 domain family member 10C | ||||||
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There are no transcripts associated with this gene. |