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GTGACATTCACCACCCCAATCTGTG[A/G]CCTGAATAGGTCAATCTTGAAAGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
17 submissions
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Phenotype: |
MIM: 114251 MIM: 610132 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CASQ2 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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CASQ2 - calsequestrin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001232.3 | 1249 | Missense Mutation | CCA,TCA | P,S 329 | NP_001223.2 |
VANGL1 - VANGL planar cell polarity protein 1 | ||||||
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There are no transcripts associated with this gene. |