Product Details

SNP ID

rs189932200

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:100569632 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAAACTGAAGAATAAATTCGGAGA[A/C]GTTTTGGAGATCTCAGGGAAGGATT

Phenotype

MIM: 611678

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PDCL3 PubMed Links

Gene Details

Gene

PDCL3

Gene Name

phosducin like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024065.4	520	Intron			NP_076970.1
XM_017004890.1	520	Missense Mutation	GAA,GAC	E43D	XP_016860379.1

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