Product Details

SNP ID

rs149293567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73632121 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTGGGCATCTGGAAGGTCATGC[A/G]TTTGGAGGCCTTCTCATATCCACCA

Phenotype

MIM: 605603

Polymorphism

A/G, 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	1074	Missense Mutation	CGC,TGC	R237C	NP_067068.1

Gene

USP54

Gene Name

ubiquitin specific peptidase 54

There are no transcripts associated with this gene.

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