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TATAGTCATGTTGGAAGGCCTTGTA[G/T]CCTGGGTTCTCAATACCTATTTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 608877 | ||||||||||||||||||||
Literature Links: |
VPS13D 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 |
VPS13D - vacuolar protein sorting 13 homolog D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015378.3 | 177 | Missense Mutation | GCC,TCC | A,S 7 | NP_056193.2 | |
NM_018156.3 | 177 | Missense Mutation | GCC,TCC | A,S 7 | NP_060626.2 |