Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCGCATCTACTATGAAAATATACTT[C/T]TAGGAGTTCCCAGAGTTCGTCAACT
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 |
---|---|---|
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 |
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 | 346 | Silent Mutation | CTA,TTA | L,L 126 | NP_001245377.1 | |
NM_001258449.1 | 346 | Silent Mutation | CTA,TTA | L,L 126 | NP_001245378.1 | |
NM_001300921.1 | 346 | Silent Mutation | CTA,TTA | L,L 126 | NP_001287850.1 | |
NM_014386.3 | 346 | Silent Mutation | CTA,TTA | L,L 126 | NP_055201.2 | |
XM_011543318.2 | 346 | Silent Mutation | CTA,TTA | L,L 92 | XP_011541620.1 | |
XM_011543321.1 | 346 | Silent Mutation | CTA,TTA | L,L 66 | XP_011541623.1 | |
XM_017009343.1 | 346 | Silent Mutation | CTA,TTA | L,L 126 | XP_016864832.1 | |
XM_017009344.1 | 346 | Silent Mutation | CTA,TTA | L,L 66 | XP_016864833.1 | |
XM_017009345.1 | 346 | Silent Mutation | CTA,TTA | L,L 126 | XP_016864834.1 |