Search
LOADING 
- SNP ID:
- rs78383046
- Gene
-
HPS3 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.3: 149140775 - 149140775 on Build GRCh38
- Polymorphism:
- A/C, Transversion substitution
- Context Sequence [VIC/FAM]:
TTACTAGTTGAATGACCTTGGGTTA[A/C]TAATACCATCTCTGAGTTTCAACAT
Genomic Map
Back To TopAssay Details
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||
Phenotype: |
MIM: 606118
|
|||||||||||||||||||||||
Literature Links: |
HPS3 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
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 |
| HPS3 - HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001308258.1 | Intron | NP_001295187.1 | ||||
| NM_032383.4 | Intron | NP_115759.2 | ||||
| XM_005247834.3 | Intron | XP_005247891.1 | ||||
| XM_017007323.1 | Intron | XP_016862812.1 | ||||
Back To Top