Product Details

SNP ID: rs146813768
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:35003525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGGTACTTCTTGCTGTGCTCCATC[C/T]GCTGCAGCAGCCGCAGGTACAGGGG
Phenotype: MIM: 609928 MIM: 608430
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: MYH7B PubMed Links

Gene Details

Gene: MYH7B
Gene Name: myosin heavy chain 7B

There are no transcripts associated with this gene.

Gene: TRPC4AP
Gene Name: transient receptor potential cation channel subfamily C member 4 associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015638.2	1653	Missense Mutation	CAG,CGG	Q714R	NP_056453.1
NM_199368.1	1653	Missense Mutation	CAG,CGG	Q706R	NP_955400.1
XM_011528772.2	1653	Intron			XP_011527074.1
XM_011528774.1	1653	Missense Mutation	CAG,CGG	Q316R	XP_011527076.1
XM_017027799.1	1653	Intron			XP_016883288.1
XM_017027800.1	1653	Missense Mutation	CAG,CGG	Q376R	XP_016883289.1
XM_017027801.1	1653	Missense Mutation	CAG,CGG	Q316R	XP_016883290.1

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