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CGTGGATACCTCTGTCTCCGCCACC[G/T]CCCGGCCACGCATGAGGAAGAAACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605248 MIM: 603197 | ||||||||||||||||||||
Literature Links: |
MCOLN1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
MCOLN1 - mucolipin 1 | ||||||
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There are no transcripts associated with this gene. |
PNPLA6 - patatin like phospholipase domain containing 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166111.1 | 518 | Missense Mutation | GCC,TCC | A,S 131 | NP_001159583.1 | |
NM_001166112.1 | 518 | Missense Mutation | GCC,TCC | A,S 83 | NP_001159584.1 | |
NM_001166113.1 | 518 | Missense Mutation | GCC,TCC | A,S 83 | NP_001159585.1 | |
NM_001166114.1 | 518 | Missense Mutation | GCC,TCC | A,S 122 | NP_001159586.1 | |
NM_006702.4 | 518 | Missense Mutation | GCC,TCC | A,S 83 | NP_006693.3 |