Product Details

SNP ID
rs139565052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:36498277 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACACAACGTACCTGAGGCAGCG[C/T]TCGGATGGACGTGACACCAGCCTGG
Phenotype
MIM: 604500
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYO19 PubMed Links

Gene Details

Gene
MYO19
Gene Name
myosin XIX
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033580.2 3399 Intron NP_001028752.1
NM_001163735.1 3399 Missense Mutation ACG,GCG T916A NP_001157207.1
NM_025109.5 3399 Missense Mutation ACG,GCG T716A NP_079385.2
XM_011525286.1 3399 Missense Mutation ACG,GCG T993A XP_011523588.1
XM_011525287.1 3399 Missense Mutation ACG,GCG T991A XP_011523589.1
XM_011525290.2 3399 Missense Mutation ACG,GCG T947A XP_011523592.1
XM_017025157.1 3399 Missense Mutation ACG,GCG T993A XP_016880646.1
XM_017025158.1 3399 Missense Mutation ACG,GCG T962A XP_016880647.1
XM_017025159.1 3399 Missense Mutation ACG,GCG T949A XP_016880648.1
XM_017025160.1 3399 Intron XP_016880649.1
XM_017025161.1 3399 Missense Mutation ACG,GCG T800A XP_016880650.1
Gene
ZNHIT3
Gene Name
zinc finger HIT-type containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281432.1 3399 UTR 3 NP_001268361.1
NM_001281433.1 3399 Intron NP_001268362.1
NM_001281434.1 3399 Intron NP_001268363.1
NM_004773.3 3399 Intron NP_004764.1

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