Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGTAAACTTTTCGAACACAGCCT[C/T]GATTGGCACTGTCTTTTTTGTGGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608879 | ||||||||||||||||||||
Literature Links: |
VPS13C 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 |
VPS13C - vacuolar protein sorting 13 homolog C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018088.2 | 11205 | Intron | NP_001018098.1 | |||
NM_017684.4 | 11205 | Missense Mutation | CAA,CGA | Q,R 3662 | NP_060154.3 | |
NM_018080.3 | 11205 | Intron | NP_060550.2 | |||
NM_020821.2 | 11205 | Missense Mutation | CAA,CGA | Q,R 3705 | NP_065872.1 | |
XM_011521713.2 | 11205 | Intron | XP_011520015.1 | |||
XM_011521714.2 | 11205 | Intron | XP_011520016.1 |