Product Details

SNP ID

rs200774892

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232480777 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTACTTGAGCCGGGGAAGTGGGT[A/G]CTCTGGGCCGTGCTCCCGCACCCAC

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	2328	Missense Mutation	CAC,TAC	H696Y	NP_001277716.1
NM_004826.3	2328	Missense Mutation	CAC,TAC	H698Y	NP_004817.2

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