Product Details

SNP ID

rs200552267

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:46257097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGATGGCCCTCTGAGCCAGGC[A/G]CACATCGTAGAAGAATCTGGAATAC

Phenotype

MIM: 604670

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDPF1 PubMed Links

Gene Details

Gene

CDPF1

Gene Name

cysteine rich DPF motif domain containing 1

There are no transcripts associated with this gene.

Gene

PKDREJ

Gene Name

polycystin (PKD) family receptor for egg jelly

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006071.1	6226	Missense Mutation	CGC,TGC	R2076C	NP_006062.1

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