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GGTGAAGGGTACTTTTCATGGTGCA[C/T]GGAAGGAAAGCCAATGCGCAGGTAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
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Literature Links: |
KLHL20 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 |
KLHL20 - kelch like family member 20 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014458.3 | 460 | Missense Mutation | ACG,ATG | T,M 1 | NP_055273.2 | |
XM_005245093.3 | 460 | Missense Mutation | ACG,ATG | T,M 1 | XP_005245150.1 | |
XM_011509420.2 | 460 | Missense Mutation | ACG,ATG | T,M 1 | XP_011507722.1 | |
XM_017001052.1 | 460 | Missense Mutation | ACG,ATG | T,M 76 | XP_016856541.1 | |
XM_017001053.1 | 460 | Missense Mutation | ACG,ATG | T,M 76 | XP_016856542.1 | |
XM_017001054.1 | 460 | Missense Mutation | ACG,ATG | T,M 1 | XP_016856543.1 |