Product Details

SNP ID

rs200206773

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30385193 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCAGGAGATGAAGACGAGACTTT[C/G]AAAGATGGAATCACAAACGGCGCAC

Phenotype

MIM: 603102

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CPD PubMed Links

Gene Details

Gene

CPD

Gene Name

carboxypeptidase D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199775.1	370	Missense Mutation	TTC,TTG	F70L	NP_001186704.1
NM_001304.4	370	Missense Mutation	TTC,TTG	F317L	NP_001295.2

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