Product Details

SNP ID

rs201443990

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73634017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGCTCGCTCCCATGGGGAAATA[C/T]AGGTCTTGAACACAGTGATATGTTT

Phenotype

MIM: 605603

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYOZ1 PubMed Links

Gene Details

Gene

MYOZ1

Gene Name

myozenin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021245.3	916	Missense Mutation	TAT,TGT	Y184C	NP_067068.1

Gene

USP54

Gene Name

ubiquitin specific peptidase 54

There are no transcripts associated with this gene.

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