Product Details

SNP ID

rs200266892

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44006115 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCTGTGCCCCATCGGGGAGACG[A/G]CCGCGCGCCGCTCCGTGCTTCTCGA

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	683	Missense Mutation	ACC,GCC	T265A	NP_694551.1
XM_011524438.1	683	Missense Mutation	ACC,GCC	T265A	XP_011522740.1
XM_011524439.2	683	Missense Mutation	ACC,GCC	T99A	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	683	Intron			NP_004151.3
XM_011525035.1	683	Intron			XP_011523337.1

Gene

TMEM101

Gene Name

transmembrane protein 101

There are no transcripts associated with this gene.

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