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Search Thermo Fisher Scientific
TTCCTTACATTTGGGTGAGAGCCCT[C/T]GGCAATGGTGGAGAGGGAGAAGTTA
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 |
---|---|---|
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 |
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 | 1695 | Missense Mutation | AAG,GAG | K,E 343 | NP_001193871.1 | |
NM_001206943.1 | 1695 | Missense Mutation | AAG,GAG | K,E 481 | NP_001193872.1 | |
NM_001206944.1 | 1695 | Intron | NP_001193873.1 | |||
NM_001206945.1 | 1695 | Missense Mutation | AAG,GAG | K,E 343 | NP_001193874.1 | |
NM_006574.3 | 1695 | Missense Mutation | AAG,GAG | K,E 481 | NP_006565.2 |