Product Details

SNP ID

rs201100866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:54982071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGGGAATTTCAGGCATTTTCCC[A/G]TCCCCCTGTCACAGATGCCTGACTG

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	446	Intron			NP_001129076.1
NM_007036.4	446	Missense Mutation	ACG,ATG	T126M	NP_008967.1

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