Product Details

SNP ID

rs199564701

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:186444126 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCAGCAACACTAATAAAATTGCT[C/T]ATGAGTTCCCCACCTTTATAGATGA

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	668	Missense Mutation	ATA,ATG	I198M	NP_002588.3
NM_022576.3	668	Missense Mutation	ATA,ATG	I146M	NP_072098.1
XM_011509603.2	668	Missense Mutation	ATA,ATG	I198M	XP_011507905.1

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