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SNP ID

rs146916457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30071228 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGCGTAAAGCAGGTCGAGTGA[A/G]CGGCCGTCGTAGAAGGCCACGCGGC

Phenotype

MIM: 606670 MIM: 607524 MIM: 607525

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPP1R11 PubMed Links

Gene Details

Gene

PPP1R11

Gene Name

protein phosphatase 1 regulatory inhibitor subunit 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021959.2	771	Intron			NP_068778.1
XM_006715174.3	771	Intron			XP_006715237.1

Gene

RNF39

Gene Name

ring finger protein 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025236.3	771	Silent Mutation	CGC,CGT	R382R	NP_079512.2
NM_170769.2	771	Intron			NP_739575.2
XM_017011325.1	771	Silent Mutation	CGC,CGT	R229R	XP_016866814.1
XM_017011326.1	771	Intron			XP_016866815.1

Gene

ZNRD1

Gene Name

zinc ribbon domain containing 1

There are no transcripts associated with this gene.

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