Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGAATAAAGATACTGGAGGGTCA[C/T]CTTCTAATCTGTATTTTCCAGAGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 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 |
---|---|---|
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 |
MCOLN3 - mucolipin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001253693.1 | 1527 | Missense Mutation | GAT,GGT | D,G 485 | NP_001240622.1 | |
NM_018298.10 | 1527 | Missense Mutation | GAT,GGT | D,G 541 | NP_060768.8 | |
XM_005271003.1 | 1527 | Missense Mutation | GAT,GGT | D,G 541 | XP_005271060.1 | |
XM_006710750.1 | 1527 | Missense Mutation | GAT,GGT | D,G 541 | XP_006710813.1 | |
XM_011541739.2 | 1527 | Missense Mutation | GAT,GGT | D,G 554 | XP_011540041.2 | |
XM_011541740.2 | 1527 | Missense Mutation | GAT,GGT | D,G 509 | XP_011540042.1 | |
XM_011541741.2 | 1527 | Intron | XP_011540043.1 | |||
XM_011541742.1 | 1527 | Missense Mutation | GAT,GGT | D,G 386 | XP_011540044.1 |