Product Details

SNP ID

rs56919948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:36500857 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGATGAGCATGACGGCCCGCC[A/G]CTGCCGCTCCTGCTCTCGGTGCCGG

Phenotype

MIM: 604500

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MYO19 PubMed Links

Gene Details

Gene

MYO19

Gene Name

myosin XIX

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033580.2	3003	Intron			NP_001028752.1
NM_001163735.1	3003	Missense Mutation	CGG,TGG	R784W	NP_001157207.1
NM_025109.5	3003	Missense Mutation	CGG,TGG	R584W	NP_079385.2
XM_011525286.1	3003	Missense Mutation	CGG,TGG	R861W	XP_011523588.1
XM_011525287.1	3003	Missense Mutation	CGG,TGG	R859W	XP_011523589.1
XM_011525290.2	3003	Missense Mutation	CGG,TGG	R815W	XP_011523592.1
XM_017025157.1	3003	Missense Mutation	CGG,TGG	R861W	XP_016880646.1
XM_017025158.1	3003	Missense Mutation	CGG,TGG	R830W	XP_016880647.1
XM_017025159.1	3003	Missense Mutation	CGG,TGG	R817W	XP_016880648.1
XM_017025160.1	3003	Missense Mutation	CGG,TGG	R861W	XP_016880649.1
XM_017025161.1	3003	Missense Mutation	CGG,TGG	R668W	XP_016880650.1

Gene

ZNHIT3

Gene Name

zinc finger HIT-type containing 3

There are no transcripts associated with this gene.

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