Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAAGAGAGATCTTGGTCACAGGAAC[C/T]TGCCATTTGAAGTGTGTGTGTTACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606682 MIM: 602254 MIM: 612747 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPS4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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HPS4 - HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 | ||||||
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There are no transcripts associated with this gene. |
SRRD - SRR1 domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013694.2 | 427 | Silent Mutation | ACC,ACT | T,T 136 | NP_001013716.2 | |
XM_011530178.2 | 427 | Silent Mutation | ACC,ACT | T,T 65 | XP_011528480.1 | |
XM_017028799.1 | 427 | Silent Mutation | ACC,ACT | T,T 136 | XP_016884288.1 |
TFIP11 - tuftelin interacting protein 11 | ||||||
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There are no transcripts associated with this gene. |