Product Details

SNP ID

rs140848028

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:150662984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGGGCCAGTGATGGCTGCCATG[C/G]GGGACCTCACTGAACCAGGTAAGGT

Phenotype

MIM: 610735 MIM: 608155

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MYOZ3 PubMed Links

Gene Details

Gene

MYOZ3

Gene Name

myozenin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122853.2	283	Missense Mutation	CGG,GGG	R15G	NP_001116325.1
NM_133371.4	283	Missense Mutation	CGG,GGG	R15G	NP_588612.2

Gene

SYNPO

Gene Name

synaptopodin

There are no transcripts associated with this gene.

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