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CCTCGGCAATGGTGGAGAGGGAGAA[A/G]TTATCATTGTGGAGCTCAGATGGGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 606775 | |||||||||||||||||||||||
Literature Links: |
CSPG5 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 - 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 |
CSPG5 - chondroitin sulfate proteoglycan 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206942.1 | 1673 | Silent Mutation | AAC,AAT | N,N 335 | NP_001193871.1 | |
NM_001206943.1 | 1673 | Silent Mutation | AAC,AAT | N,N 473 | NP_001193872.1 | |
NM_001206944.1 | 1673 | Intron | NP_001193873.1 | |||
NM_001206945.1 | 1673 | Silent Mutation | AAC,AAT | N,N 335 | NP_001193874.1 | |
NM_006574.3 | 1673 | Silent Mutation | AAC,AAT | N,N 473 | NP_006565.2 |