Product Details

SNP ID: rs146244852
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:44014832 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTGCTCACCGGCGTGCCTCAGCCC[A/T]CTCAGCGTACAGCATGAGCTGGCTG
Phenotype: MIM: 608300 MIM: 600781
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: NAGS PubMed Links

Gene Details

Gene: NAGS
Gene Name: N-acetylglutamate synthase

There are no transcripts associated with this gene.

Gene: PYY
Gene Name: peptide YY

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004160.5	1566	Intron			NP_004151.3
XM_011525035.1	1566	Intron			XP_011523337.1

Gene: TMEM101
Gene Name: transmembrane protein 101

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304813.1	1566	Intron			NP_001291742.1
NM_001304814.1	1566	Intron			NP_001291743.1
NM_032376.3	1566	Missense Mutation	AGG,TGG	R41W	NP_115752.1
XM_005257737.2	1566	Missense Mutation	AGG,TGG	R41W	XP_005257794.1
XM_011525346.1	1566	Missense Mutation	AGG,TGG	R41W	XP_011523648.1
XM_011525347.1	1566	Missense Mutation	AGG,TGG	R41W	XP_011523649.1
XM_011525349.1	1566	Missense Mutation	AGG,TGG	R41W	XP_011523651.1
XM_011525351.1	1566	Missense Mutation	AGG,TGG	R41W	XP_011523653.1
XM_011525353.1	1566	Intron			XP_011523655.1

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