Product Details

SNP ID

rs139771484

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:142821012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGTGGCGTGCAAACTCCCATCG[C/T]GAGTGATGGTTGTGATAACAGTGCC

Phenotype

MIM: 607064

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PCOLCE2 PubMed Links

Gene Details

Gene

PCOLCE2

Gene Name

procollagen C-endopeptidase enhancer 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013363.3	1290	Missense Mutation	CAC,CGC	H328R	NP_037495.1

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