Product Details

SNP ID: rs148395751
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:81833833 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGTCGTTGGTTGCATCCCTGTCCG[A/C]TCCCAGGGAGATAAGGTACCTGGGG
Phenotype: MIM: 616514 MIM: 176790
Polymorphism: A/C, 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	458	Intron			NP_001087236.1
NM_001288798.1	458	Intron			NP_001275727.1
NM_001288799.1	458	Intron			NP_001275728.1
NM_207368.4	458	Intron			NP_997251.2
XM_011523571.2	458	Intron			XP_011521873.1
XM_011523572.2	458	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	458	Missense Mutation	GCG,TCG	A121S	NP_001007534.1

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