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SNP ID: rs144167382
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:30061622 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGGTCCTGCCTCTGCCCGGGGCTC[A/T]GGATACGGTCACCTGTATTCGCTGT
Phenotype: MIM: 606670 MIM: 607524 MIM: 607525 MIM: 615714
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: PPP1R11 PubMed Links

Gene Details

Gene: PPP1R11
Gene Name: protein phosphatase 1 regulatory inhibitor subunit 11

There are no transcripts associated with this gene.

Gene: RNF39
Gene Name: ring finger protein 39

There are no transcripts associated with this gene.

Gene: ZNRD1
Gene Name: zinc ribbon domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278785.1	267	Missense Mutation	CAG,CTG	Q33L	NP_001265714.1
NM_001278786.1	267	Missense Mutation	CAG,CTG	Q33L	NP_001265715.1
NM_014596.5	267	Missense Mutation	CAG,CTG	Q33L	NP_055411.1
NM_170783.3	267	Missense Mutation	CAG,CTG	Q33L	NP_740753.1

Gene: ZNRD1ASP
Gene Name: zinc ribbon domain containing 1 antisense, pseudogene

There are no transcripts associated with this gene.

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