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SNP ID: rs186127828
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:44006553 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTCCTGAGTAACGTGAACCTGCCC[A/G]CCGACCTGGACCTGGTGTGCAACGC
Phenotype: MIM: 608300 MIM: 600781
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: NAGS PubMed Links

Gene Details

Gene: NAGS
Gene Name: N-acetylglutamate synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153006.2	830	Missense Mutation	ACC,GCC	T314A	NP_694551.1
XM_011524438.1	830	Missense Mutation	ACC,GCC	T314A	XP_011522740.1
XM_011524439.2	830	Missense Mutation	ACC,GCC	T148A	XP_011522741.1

Gene: PYY
Gene Name: peptide YY

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004160.5	830	Intron			NP_004151.3
XM_011525035.1	830	Intron			XP_011523337.1

Gene: TMEM101
Gene Name: transmembrane protein 101

There are no transcripts associated with this gene.

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