Product Details

SNP ID

rs139804296

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:171636189 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACTGCTTACGGATGTTTGTCTC[C/T]CAGGTTTGTTCGAGTTCCAGATTCT

Phenotype

MIM: 601652

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYOC PubMed Links

Gene Details

Gene

MYOC

Gene Name

myocilin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000261.1	1273	Nonsense Mutation	TGA,TGG	*417W	NP_000252.1

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