Product Details

SNP ID

rs34163229

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73647154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGGTGTTGCCCGAGGCCCCTGG[G/T]ATTGGGCCTTAGGGAGAGTTCGGGC

Phenotype

MIM: 605603

Polymorphism

G/T, Transversion 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	1814	Missense Mutation	TAC,TCC	Y833S	NP_001107605.1
NM_024875.4	1814	Missense Mutation	TAC,TCC	Y609S	NP_079151.2
XM_005270158.2	1814	Missense Mutation	TAC,TCC	Y537S	XP_005270215.1
XM_005270159.3	1814	Missense Mutation	TAC,TCC	Y537S	XP_005270216.1

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