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GACGGCCGCCTCTACGCCATCGGCG[A/G]CGAATTCCAGAGGACGCCCATCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613727 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KBTBD13 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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KBTBD13 - kelch repeat and BTB domain containing 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101362.2 | 794 | Missense Mutation | GAC,GGC | D,G 265 | NP_001094832.1 |
RASL12 - RAS like family 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307930.1 | 794 | Intron | NP_001294859.1 | |||
NM_016563.3 | 794 | Intron | NP_057647.1 | |||
XM_005254434.4 | 794 | Intron | XP_005254491.1 | |||
XM_011521660.2 | 794 | Intron | XP_011519962.1 | |||
XM_017022296.1 | 794 | Intron | XP_016877785.1 |