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CCAGGATCTCGATCAGCACGGGCTC[A/G]TACTCTGCCACAAACTGATCACACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605516 MIM: 176801 | ||||||||||||||||||||
Literature Links: |
CDH23 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 |
CDH23 - cadherin-related 23 | ||||||
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There are no transcripts associated with this gene. |
PSAP - prosaposin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042465.2 | 1534 | Silent Mutation | TAC,TAT | Y,Y 461 | NP_001035930.1 | |
NM_001042466.2 | 1534 | Silent Mutation | TAC,TAT | Y,Y 460 | NP_001035931.1 | |
NM_002778.3 | 1534 | Silent Mutation | TAC,TAT | Y,Y 458 | NP_002769.1 |