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GGCTGAAGGTGCCCAGCTGCAGGGC[A/G]GCAGTAATGAGGTACTGTGCCCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
29 submissions
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Phenotype: |
MIM: 616262 MIM: 606225 MIM: 165270 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KLHL21 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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KLHL21 - kelch like family member 21 | ||||||
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There are no transcripts associated with this gene. |
TAS1R1 - taste 1 receptor member 1 | ||||||
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There are no transcripts associated with this gene. |
ZBTB48 - zinc finger and BTB domain containing 48 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278647.1 | 828 | Missense Mutation | AGC,GGC | S,G 227 | NP_001265576.1 | |
NM_001278648.1 | 828 | Missense Mutation | AGC,GGC | S,G 227 | NP_001265577.1 | |
NM_005341.3 | 828 | Missense Mutation | AGC,GGC | S,G 227 | NP_005332.1 | |
XM_017001110.1 | 828 | Missense Mutation | AGC,GGC | S,G 227 | XP_016856599.1 | |
XM_017001111.1 | 828 | Missense Mutation | AGC,GGC | S,G 227 | XP_016856600.1 | |
XM_017001112.1 | 828 | UTR 5 | XP_016856601.1 | |||
XM_017001113.1 | 828 | UTR 5 | XP_016856602.1 | |||
XM_017001114.1 | 828 | UTR 5 | XP_016856603.1 |