Product Details

SNP ID

rs140224239

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:186446439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATTATCTTACCTTTCTGCTGACT[C/T]GTTCCTTTGAATCTTTGCCATTCCT

Phenotype

MIM: 171490

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC102724919 PubMed Links

Gene Details

Gene

LOC102724919

Gene Name

uncharacterized LOC102724919

There are no transcripts associated with this gene.

Gene

PDC

Gene Name

phosducin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002597.4	274	Missense Mutation	CAA,CGA	Q67R	NP_002588.3
NM_022576.3	274	Missense Mutation	CAA,CGA	Q15R	NP_072098.1
XM_011509603.2	274	Missense Mutation	CAA,CGA	Q67R	XP_011507905.1

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