Product Details

SNP ID

rs200448500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:150143340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCCCGGGAGGACTCGGCGCCC[G/T]TGGCCACGGCGGCCGCTGCAGGGCA

Phenotype

MIM: 613242

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PPP1R14C PubMed Links

Gene Details

Gene

PPP1R14C

Gene Name

protein phosphatase 1 regulatory inhibitor subunit 14C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030949.2	289	Missense Mutation	GTG,TTG	V50L	NP_112211.1
XM_005267152.4	289	Intron			XP_005267209.1

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