Product Details

SNP ID
rs139219670
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96326989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTGGAACACTGGCCTCTTTTGC[A/C]TTTTTCTCGTCTTTGAGCTCCTGCG
Phenotype
MIM: 602332 MIM: 601664
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ITPRIPL1 PubMed Links

Gene Details

Gene
ITPRIPL1
Gene Name
inositol 1,4,5-trisphosphate receptor interacting protein-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008949.2 693 Missense Mutation ATT,CTT I120L NP_001008949.1
NM_001163523.1 693 Missense Mutation ATT,CTT I112L NP_001156995.1
NM_001163524.1 693 Missense Mutation ATT,CTT I112L NP_001156996.1
NM_001324490.1 693 Missense Mutation ATT,CTT I112L NP_001311419.1
NM_178495.5 693 Missense Mutation ATT,CTT I128L NP_848590.3
XM_017003427.1 693 Missense Mutation ATT,CTT I120L XP_016858916.1
Gene
LOC105373495
Gene Name
uncharacterized LOC105373495
There are no transcripts associated with this gene.

Gene
NCAPH
Gene Name
non-SMC condensin I complex subunit H
There are no transcripts associated with this gene.

Gene
SNRNP200
Gene Name
small nuclear ribonucleoprotein U5 subunit 200
There are no transcripts associated with this gene.

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