Product Details

SNP ID
rs199927907
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81834603 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGCCCCGTATTTGACCAGCAGCT[A/T]CACGCATTCCAGGTTTCCAGAGAGC
Phenotype
MIM: 616514 MIM: 176790
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MCRIP1 PubMed Links

Gene Details

Gene
MCRIP1
Gene Name
MAPK regulated corepressor interacting protein 1
There are no transcripts associated with this gene.

Gene
P4HB
Gene Name
prolyl 4-hydroxylase subunit beta
There are no transcripts associated with this gene.

Gene
PPP1R27
Gene Name
protein phosphatase 1 regulatory subunit 27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007533.3 338 Nonsense Mutation AAG,TAG K81* NP_001007534.1

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