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SNP ID: rs143427275
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:44006037 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCTGGCCCACAGCTACGGCGGCATC[A/G]TCTCGGTGGAGACAGACCTGCTGCA
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	605	Missense Mutation	ATC,GTC	I239V	NP_694551.1
XM_011524438.1	605	Missense Mutation	ATC,GTC	I239V	XP_011522740.1
XM_011524439.2	605	Missense Mutation	ATC,GTC	I73V	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	605	Intron			NP_004151.3
XM_011525035.1	605	Intron			XP_011523337.1

Gene: TMEM101
Gene Name: transmembrane protein 101

There are no transcripts associated with this gene.

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