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CTTTCATTGGTCTACACACAGTCCA[A/C]TGATTTTGATGAGGATCGTATCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
KLHL28 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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KLHL28 - kelch like family member 28 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308112.1 | 1735 | Missense Mutation | CAG,CAT | Q,H 519 | NP_001295041.1 | |
NM_017658.4 | 1735 | Missense Mutation | CAG,CAT | Q,H 505 | NP_060128.2 | |
XM_005267770.3 | 1735 | Missense Mutation | CAG,CAT | Q,H 505 | XP_005267827.1 | |
XM_006720174.3 | 1735 | Intron | XP_006720237.1 | |||
XM_011536847.2 | 1735 | Missense Mutation | CAG,CAT | Q,H 505 | XP_011535149.1 | |
XM_011536849.2 | 1735 | Intron | XP_011535151.1 | |||
XM_017021378.1 | 1735 | Intron | XP_016876867.1 |