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TTGATGAGGATCGTATCTTTCAATG[C/T]TGGACAAATGTGAGACTCCATTATG
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 |
---|---|---|
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 |
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 | 1704 | Missense Mutation | AAC,AGC | N,S 509 | NP_001295041.1 | |
NM_017658.4 | 1704 | Missense Mutation | AAC,AGC | N,S 495 | NP_060128.2 | |
XM_005267770.3 | 1704 | Missense Mutation | AAC,AGC | N,S 495 | XP_005267827.1 | |
XM_006720174.3 | 1704 | Intron | XP_006720237.1 | |||
XM_011536847.2 | 1704 | Missense Mutation | AAC,AGC | N,S 495 | XP_011535149.1 | |
XM_011536849.2 | 1704 | Intron | XP_011535151.1 | |||
XM_017021378.1 | 1704 | Intron | XP_016876867.1 |