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AGATGGAGAAGCCCACAATGAAGAT[A/T]TTTCGCCCAGAGTCTATGTCAGCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611290 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CNPPD1 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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CNPPD1 - cyclin Pas1/PHO80 domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
NHEJ1 - non-homologous end joining factor 1 | ||||||
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There are no transcripts associated with this gene. |
SLC23A3 - solute carrier family 23 member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144889.1 | 1119 | Missense Mutation | AAA,AAT | K,N 453 | NP_001138361.1 | |
NM_001144890.1 | 1119 | Missense Mutation | AAA,AAT | K,N 461 | NP_001138362.1 | |
NM_144712.4 | 1119 | Missense Mutation | AAA,AAT | K,N 336 | NP_653313.3 |