Product Details

SNP ID: rs17552879
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:210477778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCCGAGGCCCATGGTGAGTCTTAA[A/G]CTGGATATCTCTCATGTTTTAAAAG
Phenotype: MIM: 608307 MIM: 604155
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: LANCL1
Gene Name: LanC like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136574.1		Intron			NP_001130046.1
NM_001136575.1		Intron			NP_001130047.1
NM_006055.2		Intron			NP_006046.1
XM_005246243.2		Intron			XP_005246300.1

Gene: LANCL1-AS1
Gene Name: LANCL1 antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details