Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCTCTTCGTGCATGGCAGAGATGG[C/T]GACTGCGACTCGGCTGCTGGGGTGG
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 |
---|---|---|
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 |
IVD - isovaleryl-CoA dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159508.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | NP_001152980.1 | |
NM_002225.3 | 45 | Missense Mutation | GCG,GTG | A,V 5 | NP_002216.2 | |
XM_005254350.2 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_005254407.1 | |
XM_006720492.2 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_006720555.1 | |
XM_006720495.2 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_006720558.1 | |
XM_017022149.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877638.1 | |
XM_017022150.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877639.1 | |
XM_017022151.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877640.1 | |
XM_017022152.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877641.1 | |
XM_017022153.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877642.1 | |
XM_017022154.1 | 45 | Intron | XP_016877643.1 | |||
XM_017022155.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877644.1 | |
XM_017022156.1 | 45 | UTR 5 | XP_016877645.1 | |||
XM_017022157.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877646.1 | |
XM_017022158.1 | 45 | Missense Mutation | GCG,GTG | A,V 5 | XP_016877647.1 |