Product Details

SNP ID

rs34009810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:91051467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGGTCCATAACTGAAGGAATCT[C/T]GTTCTGCAGGCAGCATGGATGGGCT

Phenotype

MIM: 603288

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KERA PubMed Links

Gene Details

Gene

KERA

Gene Name

keratocan

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007035.3	1557	Missense Mutation	CAA,CGA	Q313R	NP_008966.1

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