Product Details

SNP ID

hCV12077311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184299885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATAAACAGCTTCAAGATGAACTGG[A/T]GATGCTCGTGGAACGACTAGGGGTG

Phenotype

MIM: 610145 MIM: 606223

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ECE2 PubMed Links

Gene Details

Gene

ECE2

Gene Name

endothelin converting enzyme 2

There are no transcripts associated with this gene.

Gene

PSMD2

Gene Name

proteasome 26S subunit, non-ATPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278708.1	339	Intron			NP_001265637.1
NM_001278709.1	339	Intron			NP_001265638.1
NM_002808.4	339	Missense Mutation	GAG,GTG	E57V	NP_002799.3

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