Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCGTCAGGGGATGTGGGATCTGGGG[C/T]GGTCCAGGCCATGGATTCCACATGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606682 | ||||||||||||||||||||
Literature Links: |
HPS4 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 |
HPS4 - HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022081.5 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | NP_071364.4 | |
NM_152841.2 | 1514 | Missense Mutation | ACC,GCC | T,A 303 | NP_690054.1 | |
XM_006724353.3 | 1514 | Missense Mutation | ACC,GCC | T,A 326 | XP_006724416.1 | |
XM_006724354.3 | 1514 | Missense Mutation | ACC,GCC | T,A 326 | XP_006724417.1 | |
XM_006724360.3 | 1514 | Missense Mutation | ACC,GCC | T,A 137 | XP_006724423.1 | |
XM_011530485.1 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528787.1 | |
XM_011530486.2 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528788.1 | |
XM_011530487.2 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528789.1 | |
XM_011530488.2 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528790.1 | |
XM_011530489.2 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528791.1 | |
XM_011530490.2 | 1514 | Missense Mutation | ACC,GCC | T,A 334 | XP_011528792.1 | |
XM_011530491.2 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528793.1 | |
XM_011530492.1 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528794.1 | |
XM_011530493.2 | 1514 | Missense Mutation | ACC,GCC | T,A 352 | XP_011528795.1 | |
XM_011530494.2 | 1514 | Missense Mutation | ACC,GCC | T,A 88 | XP_011528796.1 | |
XM_011530495.2 | 1514 | Missense Mutation | ACC,GCC | T,A 137 | XP_011528797.1 | |
XM_011530496.2 | 1514 | Missense Mutation | ACC,GCC | T,A 88 | XP_011528798.1 | |
XM_017029042.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884531.1 | |
XM_017029043.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884532.1 | |
XM_017029044.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884533.1 | |
XM_017029045.1 | 1514 | Missense Mutation | ACC,GCC | T,A 334 | XP_016884534.1 | |
XM_017029046.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884535.1 | |
XM_017029047.1 | 1514 | Missense Mutation | ACC,GCC | T,A 334 | XP_016884536.1 | |
XM_017029048.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884537.1 | |
XM_017029049.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884538.1 | |
XM_017029050.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884539.1 | |
XM_017029051.1 | 1514 | Missense Mutation | ACC,GCC | T,A 308 | XP_016884540.1 | |
XM_017029052.1 | 1514 | Missense Mutation | ACC,GCC | T,A 172 | XP_016884541.1 | |
XM_017029053.1 | 1514 | Missense Mutation | ACC,GCC | T,A 167 | XP_016884542.1 | |
XM_017029054.1 | 1514 | Missense Mutation | ACC,GCC | T,A 154 | XP_016884543.1 | |
XM_017029055.1 | 1514 | Missense Mutation | ACC,GCC | T,A 88 | XP_016884544.1 | |
XM_017029056.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884545.1 | |
XM_017029057.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884546.1 | |
XM_017029058.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884547.1 | |
XM_017029059.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884548.1 | |
XM_017029060.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884549.1 | |
XM_017029061.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884550.1 | |
XM_017029062.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884551.1 | |
XM_017029063.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884552.1 | |
XM_017029064.1 | 1514 | Missense Mutation | ACC,GCC | T,A 43 | XP_016884553.1 |