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AGCCATGATGGGACCTGTTGTCCTA[G/T]AAGTGCAGGGGATGTGGCGAGGGGG
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) - 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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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 | 2477 | Intron | NP_001240766.1 | |||
NM_016112.2 | 2477 | Intron | NP_057196.2 | |||
XM_011540323.2 | 2477 | Missense Mutation | TTA,TTC | L,F 710 | XP_011538625.1 | |
XM_011540325.2 | 2477 | Missense Mutation | TTA,TTC | L,F 687 | XP_011538627.1 | |
XM_017016875.1 | 2477 | Missense Mutation | TTA,TTC | L,F 710 | XP_016872364.1 | |
XM_017016876.1 | 2477 | Missense Mutation | TTA,TTC | L,F 649 | XP_016872365.1 |