Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGCTTCGGGGGTCATACCGCTCAA[C/T]TGAACTCAGAGGAGAATTATCATCA
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 |
---|---|---|
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 |
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 | 1912 | Missense Mutation | ATT,GTT | I,V 524 | NP_001278932.1 | |
NM_001292006.1 | 1912 | Missense Mutation | ATT,GTT | I,V 448 | NP_001278935.1 | |
NM_001292007.1 | 1912 | Missense Mutation | ATT,GTT | I,V 341 | NP_001278936.1 | |
NM_020803.4 | 1912 | Missense Mutation | ATT,GTT | I,V 524 | NP_065854.3 |