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GGGCACAGCAAGAAGACAGCTCTCT[A/G]TGAATCAGGAAGTGGGCCCTCAACA
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609768 MIM: 604532 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BLOC1S2 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)
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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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BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 | ||||||
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There are no transcripts associated with this gene. |
PKD2L1 - polycystin 2 like 1, transient receptor potential cation channel | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001253837.1 | Intron | NP_001240766.1 | ||||
NM_016112.2 | Intron | NP_057196.2 | ||||
XM_011540323.2 | Intron | XP_011538625.1 | ||||
XM_011540325.2 | Intron | XP_011538627.1 | ||||
XM_017016875.1 | Intron | XP_016872364.1 | ||||
XM_017016876.1 | Intron | XP_016872365.1 |
Set Membership: |
HapMap |