Product Details

SNP ID
rs145976847
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:210619366 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTTTTTGTGAAGCTTAATTTAT[A/G]TAAGTATAAATGACATCTGACATAT
Phenotype
MIM: 608307
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CPS1 PubMed Links

Gene Details

Gene
CPS1
Gene Name
carbamoyl-phosphate synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122633.2 Intron NP_001116105.1
NM_001122634.3 Intron NP_001116106.1
NM_001875.4 Intron NP_001866.2
XM_011510640.1 Intron XP_011508942.1
XM_011510641.2 Intron XP_011508943.1
XM_011510642.2 Intron XP_011508944.1
XM_011510643.2 Intron XP_011508945.1
XM_011510644.2 Intron XP_011508946.1
Gene
CPS1-IT1
Gene Name
CPS1 intronic transcript 1
There are no transcripts associated with this gene.

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