Product Details

SNP ID
rs150601453
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:36498268 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGGCCATCACACACAACGTACCT[C/G]AGGCAGCGCTCGGATGGACGTGACA
Phenotype
MIM: 604500
Polymorphism
C/G, Transversion 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 3408 Intron NP_001028752.1
NM_001163735.1 3408 Missense Mutation CAG,GAG Q919E NP_001157207.1
NM_025109.5 3408 Missense Mutation CAG,GAG Q719E NP_079385.2
XM_011525286.1 3408 Nonsense Mutation CAG,GAG Q996E XP_011523588.1
XM_011525287.1 3408 Nonsense Mutation CAG,GAG Q994E XP_011523589.1
XM_011525290.2 3408 Nonsense Mutation CAG,GAG Q950E XP_011523592.1
XM_017025157.1 3408 Nonsense Mutation CAG,GAG Q996E XP_016880646.1
XM_017025158.1 3408 Nonsense Mutation CAG,GAG Q965E XP_016880647.1
XM_017025159.1 3408 Nonsense Mutation CAG,GAG Q952E XP_016880648.1
XM_017025160.1 3408 Intron XP_016880649.1
XM_017025161.1 3408 Nonsense Mutation CAG,GAG Q803E 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 3408 UTR 3 NP_001268361.1
NM_001281433.1 3408 Intron NP_001268362.1
NM_001281434.1 3408 Intron NP_001268363.1
NM_004773.3 3408 Intron NP_004764.1

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