Product Details

SNP ID

rs200548746

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:41481119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCAGCCTTTGGAGAAGCTCTCCT[A/G]TAGTGGCCCCTGTCTTGCCAGTCTG

Phenotype

MIM: 131241

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EDN2 PubMed Links

Gene Details

Gene

EDN2

Gene Name

endothelin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302269.1	501	Intron			NP_001289198.1
NM_001956.4	501	Missense Mutation	ACA,ATA	T140I	NP_001947.1
XM_017000512.1	501	Intron			XP_016856001.1

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