Product Details

SNP ID

rs202012442

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:147485769 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATCCTGAGAGATACAGCACAAAT[A/C]TAAGCAATCATGTGGATGATTTCAC

Phenotype

MIM: 131243

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EDNRA PubMed Links

Gene Details

Gene

EDNRA

Gene Name

endothelin receptor type A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166055.1	618	Missense Mutation	ATA,CTA	I30L	NP_001159527.1
NM_001256283.1	618	Intron			NP_001243212.1
NM_001957.3	618	Missense Mutation	ATA,CTA	I30L	NP_001948.1

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