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CGATCGCAGCAATGAGTTCAAGAAC[C/T]TGCGAGTGAGTTGGGAGGTCCGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607036 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IVD 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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IVD - isovaleryl-CoA dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159508.1 | 269 | Intron | NP_001152980.1 | |||
NM_002225.3 | 269 | Silent Mutation | CTG,TTG | L,L 80 | NP_002216.2 | |
XM_005254350.2 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_005254407.1 | |
XM_006720492.2 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_006720555.1 | |
XM_006720495.2 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_006720558.1 | |
XM_017022149.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877638.1 | |
XM_017022150.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877639.1 | |
XM_017022151.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877640.1 | |
XM_017022152.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877641.1 | |
XM_017022153.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877642.1 | |
XM_017022154.1 | 269 | Silent Mutation | CTG,TTG | L,L 61 | XP_016877643.1 | |
XM_017022155.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877644.1 | |
XM_017022156.1 | 269 | Silent Mutation | CTG,TTG | L,L 61 | XP_016877645.1 | |
XM_017022157.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877646.1 | |
XM_017022158.1 | 269 | Silent Mutation | CTG,TTG | L,L 80 | XP_016877647.1 |