Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGGAGGAGCTGTACCTGGGTCCTT[A/C]GGGCCCGACGCGCGGCCGCCCCACG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 609762 MIM: 610396 | ||||||||||||||||||||
Literature Links: |
BLOC1S3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
BLOC1S3 - biogenesis of lysosomal organelles complex 1 subunit 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_212550.4 | 227 | Nonsense Mutation | TAG,TCG | *,S 44 | NP_997715.1 |
TRAPPC6A - trafficking protein particle complex 6A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270891.1 | 227 | Intron | NP_001257820.1 | |||
NM_001270892.1 | 227 | Intron | NP_001257821.1 | |||
NM_001270893.1 | 227 | Intron | NP_001257822.1 | |||
NM_024108.2 | 227 | Intron | NP_077013.1 |