Product Details

SNP ID

rs112350718

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:54979371 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCATTTCCTCATTACGGGAGACCC[A/G]GCAGCATTCTCTTTCACAACTTCTT

Phenotype

MIM: 601521

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ESM1 PubMed Links

Gene Details

Gene

ESM1

Gene Name

endothelial cell specific molecule 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135604.1	585	Silent Mutation	GCC,GCT	A122A	NP_001129076.1
NM_007036.4	585	Silent Mutation	GCC,GCT	A172A	NP_008967.1

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