Product Details

SNP ID
rs113667224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:15704110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCTTCTAGAAGGAACGAAAGAGG[T/A]CTCGTTTCCTCGCCTGTGGGTTGTA
Phenotype
MIM: 160745 MIM: 609449
Polymorphism
T/A, Transversion substitution
Allele Nomenclature
Literature Links
MYH11 PubMed Links

Gene Details

Gene
MYH11
Gene Name
myosin heavy chain 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040113.1 5928 UTR 3 NP_001035202.1
NM_001040114.1 5928 Missense Mutation ACC,TCC T1941S NP_001035203.1
NM_002474.2 5928 Missense Mutation ACC,TCC T1934S NP_002465.1
NM_022844.2 5928 UTR 3 NP_074035.1
XM_011522502.2 5928 Intron XP_011520804.1
XM_017023250.1 5928 Intron XP_016878739.1
Gene
NDE1
Gene Name
nudE neurodevelopment protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143979.1 5928 Intron NP_001137451.1
NM_017668.2 5928 Intron NP_060138.1
XM_005255396.4 5928 Intron XP_005255453.1
XM_006720897.3 5928 Intron XP_006720960.1
XM_006720900.3 5928 Intron XP_006720963.1
XM_011522553.2 5928 Intron XP_011520855.1
XM_017023349.1 5928 Intron XP_016878838.1
XM_017023350.1 5928 Intron XP_016878839.1
XM_017023351.1 5928 Intron XP_016878840.1
XM_017023352.1 5928 Intron XP_016878841.1
XM_017023353.1 5928 Intron XP_016878842.1
XM_017023354.1 5928 Intron XP_016878843.1
XM_017023355.1 5928 Intron XP_016878844.1
XM_017023356.1 5928 Intron XP_016878845.1
XM_017023357.1 5928 Intron XP_016878846.1

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