Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGGAGTCGGGGACTCGGTTCTTC[A/G]ACATGGAAGGGATTTTCTCCCAATC
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||
Phenotype: |
MIM: 601444 MIM: 155740 MIM: 601617 | ||||||||||||||||||||||||||
Literature Links: |
BLOC1S1 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)
|
|||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese)
|
|||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
BLOC1S1 - biogenesis of lysosomal organelles complex 1 subunit 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
BLOC1S1-RDH5 - BLOC1S1-RDH5 readthrough | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
CD63 - CD63 molecule | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257389.1 | 623 | Missense Mutation | TCG,TTG | S,L 161 | NP_001244318.1 | |
NM_001257390.1 | 623 | Missense Mutation | TCG,TTG | S,L 161 | NP_001244319.1 | |
NM_001257391.1 | 623 | Missense Mutation | TCG,TTG | S,L 161 | NP_001244320.1 | |
NM_001257392.1 | 623 | Missense Mutation | TCG,TTG | S,L 138 | NP_001244321.1 | |
NM_001257400.1 | 623 | Missense Mutation | TCG,TTG | S,L 79 | NP_001244329.1 | |
NM_001257401.1 | 623 | Missense Mutation | TCG,TTG | S,L 79 | NP_001244330.1 | |
NM_001267698.1 | 623 | Missense Mutation | TCG,TTG | S,L 161 | NP_001254627.1 | |
NM_001780.5 | 623 | Missense Mutation | TCG,TTG | S,L 161 | NP_001771.1 |
RDH5 - retinol dehydrogenase 5 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |