Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TATGTATTACTTAAACAAGGTTATG[G/T]CATCTCTATTTTTGGACACTTCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604103 MIM: 604669 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MYOT 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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MYOT - myotilin | ||||||
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There are no transcripts associated with this gene. |
PKD2L2 - polycystin 2 like 2, transient receptor potential cation channel | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258448.1 | 154 | Missense Mutation | GCA,TCA | A,S 62 | NP_001245377.1 | |
NM_001258449.1 | 154 | Missense Mutation | GCA,TCA | A,S 62 | NP_001245378.1 | |
NM_001300921.1 | 154 | Missense Mutation | GCA,TCA | A,S 62 | NP_001287850.1 | |
NM_014386.3 | 154 | Missense Mutation | GCA,TCA | A,S 62 | NP_055201.2 | |
XM_011543318.2 | 154 | Missense Mutation | GCA,TCA | A,S 28 | XP_011541620.1 | |
XM_011543321.1 | 154 | Missense Mutation | GCA,TCA | A,S 2 | XP_011541623.1 | |
XM_017009343.1 | 154 | Missense Mutation | GCA,TCA | A,S 62 | XP_016864832.1 | |
XM_017009344.1 | 154 | Missense Mutation | GCA,TCA | A,S 2 | XP_016864833.1 | |
XM_017009345.1 | 154 | Missense Mutation | GCA,TCA | A,S 62 | XP_016864834.1 |