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TCCAGGGCACTTTTCACCACAGCCA[A/G]TGCAGCCGCTCCAAGTGCCACTGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610924 MIM: 611663 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RBCK1 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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RBCK1 - RANBP2-type and C3HC4-type zinc finger containing 1 | ||||||
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There are no transcripts associated with this gene. |
TBC1D20 - TBC1 domain family member 20 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144628.3 | 1069 | Silent Mutation | CTG,TTG | L,L 384 | NP_653229.1 | |
XM_005260661.1 | 1069 | Silent Mutation | CTG,TTG | L,L 384 | XP_005260718.1 | |
XM_006723540.3 | 1069 | Silent Mutation | CTG,TTG | L,L 322 | XP_006723603.1 | |
XM_017027645.1 | 1069 | Silent Mutation | CTG,TTG | L,L 322 | XP_016883134.1 |