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CGGCTTCACATACTGTCTCCAGGGC[C/T]GAGGCCACCATTTCCTCTTCCTTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610903 | ||||||||||||||||||||
Literature Links: |
VPS36 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 |
VPS36 - vacuolar protein sorting 36 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282168.1 | 1196 | Silent Mutation | TCA,TCG | S,S 317 | NP_001269097.1 | |
NM_001282169.1 | 1196 | Silent Mutation | TCA,TCG | S,S 268 | NP_001269098.1 | |
NM_016075.3 | 1196 | Silent Mutation | TCA,TCG | S,S 326 | NP_057159.2 |