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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