Product Details

SNP ID

rs145419337

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73646816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTACCTGGAAACCGCAGGAGCTGG[A/G]AGAAGCCCCAAGGCCCCTGGGAGCC

Phenotype

MIM: 605603

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MYOZ1 PubMed Links

Gene Details

Gene

MYOZ1

Gene Name

myozenin 1

There are no transcripts associated with this gene.

Gene

SYNPO2L

Gene Name

synaptopodin 2 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114133.2	2152	Missense Mutation	CCC,TCC	P946S	NP_001107605.1
NM_024875.4	2152	Missense Mutation	CCC,TCC	P722S	NP_079151.2
XM_005270158.2	2152	Missense Mutation	CCC,TCC	P650S	XP_005270215.1
XM_005270159.3	2152	Missense Mutation	CCC,TCC	P650S	XP_005270216.1

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