Product Details

SNP ID
rs146187682
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81833761 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCGTGGTCCCTTTGAAGAGCTCCA[C/G]CAGCTCCTTGTAGTCCGGGTCGATG
Phenotype
MIM: 616514 MIM: 176790
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MCRIP1 PubMed Links

Gene Details

Gene
MCRIP1
Gene Name
MAPK regulated corepressor interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001093767.2 530 Intron NP_001087236.1
NM_001288798.1 530 Intron NP_001275727.1
NM_001288799.1 530 Intron NP_001275728.1
NM_207368.4 530 Intron NP_997251.2
XM_011523571.2 530 Intron XP_011521873.1
XM_011523572.2 530 Intron XP_011521874.1
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_001007533.3 530 Missense Mutation CTG,GTG L145V NP_001007534.1

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