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ATCCCACTCCAGCTGCTGCTGCCGG[C/G]TTGCGTTCTGGGGGTCGCCCTGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 611321 MIM: 602839 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLSTN1 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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CLSTN1 - calsyntenin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009566.2 | 3693 | Missense Mutation | ACC,AGC | T,S 967 | NP_001009566.1 | |
NM_001302883.1 | 3693 | Missense Mutation | ACC,AGC | T,S 948 | NP_001289812.1 | |
NM_014944.4 | 3693 | Missense Mutation | ACC,AGC | T,S 957 | NP_055759.3 |
PIK3CD - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | ||||||
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There are no transcripts associated with this gene. |