Product Details
- SNP ID
-
rs201472372
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:101595087 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTGTGGCCATGCCAGAACCCACTA[A/T]GAAAGAGGGTAAGACTTATCTAGAA
- Phenotype
-
MIM: 160794
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
MYBPC1
PubMed Links
Gene Details
- Gene
- MYBPC1
- Gene Name
- myosin binding protein C, slow type
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001254718.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_001241647.1 |
NM_001254719.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_001241648.1 |
NM_001254720.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_001241649.1 |
NM_001254721.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_001241650.1 |
NM_001254722.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_001241651.1 |
NM_001254723.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_001241652.1 |
NM_002465.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_002456.2 |
NM_206819.2 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_996555.1 |
NM_206820.2 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_996556.1 |
NM_206821.2 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
NP_996557.1 |
XM_005268876.4 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_005268933.1 |
XM_006719405.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719468.1 |
XM_006719406.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719469.1 |
XM_006719407.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719470.1 |
XM_006719408.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719471.1 |
XM_006719409.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719472.1 |
XM_006719410.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719473.1 |
XM_006719411.3 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_006719474.1 |
XM_017019315.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874804.1 |
XM_017019316.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874805.1 |
XM_017019317.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874806.1 |
XM_017019318.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874807.1 |
XM_017019319.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874808.1 |
XM_017019320.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874809.1 |
XM_017019321.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874810.1 |
XM_017019322.1 |
157 |
Missense Mutation |
AAG,ATG |
K6M |
XP_016874811.1 |
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