Product Details

SNP ID

rs202206620

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:49044069 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATCCTGCCCTCAGTCGGAATCCA[C/T]GGTGAACAGCTGGATGTCCTGTGGA

Phenotype

MIM: 607461

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DYM PubMed Links

Gene Details

Gene

DYM

Gene Name

dymeclin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017653.3	2170	Missense Mutation	ATG,GTG	M666V	NP_060123.3
XM_006722488.2	2170	UTR 3			XP_006722551.1
XM_006722490.2	2170	Intron			XP_006722553.1
XM_006722491.2	2170	Intron			XP_006722554.1
XM_006722492.3	2170	Intron			XP_006722555.1
XM_011526036.1	2170	Missense Mutation	CAT,CGT	H705R	XP_011524338.1
XM_011526037.1	2170	Missense Mutation	CAT,CGT	H704R	XP_011524339.1
XM_011526038.1	2170	Missense Mutation	CAT,CGT	H704R	XP_011524340.1
XM_011526039.1	2170	Intron			XP_011524341.1
XM_011526040.1	2170	Missense Mutation	CAT,CGT	H649R	XP_011524342.1
XM_011526041.1	2170	Missense Mutation	CAT,CGT	H644R	XP_011524343.1
XM_011526042.1	2170	Intron			XP_011524344.1
XM_017025795.1	2170	Missense Mutation	CAT,CGT	H703R	XP_016881284.1
XM_017025796.1	2170	Missense Mutation	CAT,CGT	H645R	XP_016881285.1
XM_017025797.1	2170	Missense Mutation	ATG,GTG	M665V	XP_016881286.1
XM_017025798.1	2170	Missense Mutation	ATG,GTG	M665V	XP_016881287.1
XM_017025799.1	2170	Missense Mutation	ATG,GTG	M605V	XP_016881288.1
XM_017025800.1	2170	Missense Mutation	ATG,GTG	M604V	XP_016881289.1
XM_017025801.1	2170	Missense Mutation	ATG,GTG	M603V	XP_016881290.1

Gene

MIR4744

Gene Name

microRNA 4744

There are no transcripts associated with this gene.

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