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CACTCCGGGTCGCCAGTACGCCCTC[C/G]GCTGCCGCCGCCATAGCGGACCCCG
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001342.2 | 48 | Intron | NP_001001342.1 | |||
NM_001282436.1 | 48 | UTR 5 | NP_001269365.1 | |||
NM_001282437.1 | 48 | UTR 5 | NP_001269366.1 | |||
NM_001282438.1 | 48 | Intron | NP_001269367.1 | |||
NM_001282439.1 | 48 | Silent Mutation | GCC,GCG | A,A 5 | NP_001269368.1 | |
NM_173809.4 | 48 | Silent Mutation | GCC,GCG | A,A 5 | NP_776170.2 | |
XM_017016102.1 | 48 | UTR 5 | XP_016871591.1 |
PKD2L1 - polycystin 2 like 1, transient receptor potential cation channel | ||||||
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There are no transcripts associated with this gene. |