Product Details

SNP ID

rs2573248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232480512 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGGGGTGGAGGGGAGGAGGGGGA[G/T]ATGAAGCCAGGCATCCGCCCCCTTG

Phenotype

MIM: 605896

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ECEL1 PubMed Links

Gene Details

Gene

ECEL1

Gene Name

endothelin converting enzyme like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290787.1		Intron			NP_001277716.1
NM_004826.3		Intron			NP_004817.2

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