Product Details

SNP ID

rs200146571

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100348101 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATACCACCACCACCACCATTACAG[C/G]GCCTCCCTCCAGGGTCCTGCAGAAT

Phenotype

MIM: 604532 MIM: 604031

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PKD2L1 PubMed Links

Gene Details

Gene

PKD2L1

Gene Name

polycystin 2 like 1, transient receptor potential cation channel

There are no transcripts associated with this gene.

Gene

SCD

Gene Name

stearoyl-CoA desaturase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005063.4	555	Missense Mutation	GCG,GGG	A22G	NP_005054.3

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