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GAAGACCCAAATACACTATATATTT[C/T]ATTTGTAAGTATGTTAGTTCACTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
|
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Phenotype: |
MIM: 610035 | ||||||||||||||||||||
Literature Links: |
VPS45 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 |
VPS45 - vacuolar protein sorting 45 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001279353.1 | 506 | Silent Mutation | TTC,TTT | F,F 59 | NP_001266282.1 | |
NM_001279354.1 | 506 | Silent Mutation | TTC,TTT | F,F 59 | NP_001266283.1 | |
NM_001279355.1 | 506 | Intron | NP_001266284.1 | |||
NM_007259.4 | 506 | Silent Mutation | TTC,TTT | F,F 95 | NP_009190.2 | |
XM_017000164.1 | 506 | Silent Mutation | TTC,TTT | F,F 95 | XP_016855653.1 |