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GCTTCTACTGTATTTAAGTATGCAT[C/T]GCCATTATGACCACCAACTGCAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611967 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KLHL8 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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KLHL8 - kelch like family member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001292003.1 | 2035 | Missense Mutation | AAT,GAT | N,D 565 | NP_001278932.1 | |
NM_001292006.1 | 2035 | Missense Mutation | AAT,GAT | N,D 489 | NP_001278935.1 | |
NM_001292007.1 | 2035 | Missense Mutation | AAT,GAT | N,D 382 | NP_001278936.1 | |
NM_020803.4 | 2035 | Missense Mutation | AAT,GAT | N,D 565 | NP_065854.3 |