Product Details

SNP ID
rs201897416
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:137894502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCGTCAACTAAAAGTCCGCAACAA[C/G]ACATGCAAAGTCTATTCATCTTTTC
Phenotype
MIM: 604103 MIM: 604669
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MYOT PubMed Links

Gene Details

Gene
MYOT
Gene Name
myotilin
There are no transcripts associated with this gene.

Gene
PKD2L2
Gene Name
polycystin 2 like 2, transient receptor potential cation channel
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258448.1 387 Missense Mutation AAC,AAG N139K NP_001245377.1
NM_001258449.1 387 Missense Mutation AAC,AAG N139K NP_001245378.1
NM_001300921.1 387 Missense Mutation AAC,AAG N139K NP_001287850.1
NM_014386.3 387 Missense Mutation AAC,AAG N139K NP_055201.2
XM_011543318.2 387 Missense Mutation AAC,AAG N105K XP_011541620.1
XM_011543321.1 387 Missense Mutation AAC,AAG N79K XP_011541623.1
XM_017009343.1 387 Missense Mutation AAC,AAG N139K XP_016864832.1
XM_017009344.1 387 Missense Mutation AAC,AAG N79K XP_016864833.1
XM_017009345.1 387 Missense Mutation AAC,AAG N139K XP_016864834.1

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