Product Details

SNP ID

rs139624409

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232480429 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTCAGGGGCATGCTTGTCAGTC[A/G]GCACCTGCAGGTAGATGGACTGCGA

Phenotype

MIM: 605896

Polymorphism

A/G, Transition 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	2434	Missense Mutation	CCG,CTG	P731L	NP_001277716.1
NM_004826.3	2434	Missense Mutation	CCG,CTG	P733L	NP_004817.2

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