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AGTTCAGTCTCTGGGAAGCCATCTT[G/T]TTGGTATTGCTAAACAGAAGAATGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 607400 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MCOLN3 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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MCOLN3 - mucolipin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001253693.1 | 1442 | Missense Mutation | AAA,CAA | K,Q 457 | NP_001240622.1 | |
NM_018298.10 | 1442 | Missense Mutation | AAA,CAA | K,Q 513 | NP_060768.8 | |
XM_005271003.1 | 1442 | Missense Mutation | AAA,CAA | K,Q 513 | XP_005271060.1 | |
XM_006710750.1 | 1442 | Missense Mutation | AAA,CAA | K,Q 513 | XP_006710813.1 | |
XM_011541739.2 | 1442 | Missense Mutation | AAA,CAA | K,Q 526 | XP_011540041.2 | |
XM_011541740.2 | 1442 | Missense Mutation | AAA,CAA | K,Q 481 | XP_011540042.1 | |
XM_011541741.2 | 1442 | Intron | XP_011540043.1 | |||
XM_011541742.1 | 1442 | Missense Mutation | AAA,CAA | K,Q 358 | XP_011540044.1 |