Product Details

SNP ID

rs117729108

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35003210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCAATGTAGCTAACGAGAGCA[C/G]AGGGTGACTGCCGGTCCGGGTTCAA

Phenotype

MIM: 609928 MIM: 608430

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

MYH7B PubMed Links

Additional Information

For this assay, SNP(s) [rs59909520] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MYH7B

Gene Name

myosin heavy chain 7B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020884.4	1842	Intron			NP_065935.3
XM_006723840.3	1842	Intron			XP_006723903.1
XM_011528941.2	1842	Intron			XP_011527243.1
XM_011528947.2	1842	Intron			XP_011527249.1
XM_011528948.2	1842	Intron			XP_011527250.1
XM_017027986.1	1842	Intron			XP_016883475.1
XM_017027987.1	1842	Intron			XP_016883476.1

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	1842	Missense Mutation	TCT,TGT	S777C	NP_056453.1
NM_199368.1	1842	Missense Mutation	TCT,TGT	S769C	NP_955400.1
XM_011528772.2	1842	Intron			XP_011527074.1
XM_011528774.1	1842	Missense Mutation	TCT,TGT	S379C	XP_011527076.1
XM_017027799.1	1842	Intron			XP_016883288.1
XM_017027800.1	1842	Missense Mutation	TCT,TGT	S439C	XP_016883289.1
XM_017027801.1	1842	Missense Mutation	TCT,TGT	S379C	XP_016883290.1

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