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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