Product Details

SNP ID

rs182986389

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44014430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGCTAATGGCCAATTGGAGTGCG[A/G]CCCCCAGCGCGAACCAGCGCCGCTT

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

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	490	Intron			NP_004151.3
XM_011525035.1	490	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	490	Missense Mutation	GCC,GTC	A24V	NP_001291742.1
NM_001304814.1	490	Missense Mutation	GCC,GTC	A24V	NP_001291743.1
NM_032376.3	490	Missense Mutation	GCC,GTC	A82V	NP_115752.1
XM_005257737.2	490	Missense Mutation	GCC,GTC	A82V	XP_005257794.1
XM_011525346.1	490	Missense Mutation	GCC,GTC	A82V	XP_011523648.1
XM_011525347.1	490	Missense Mutation	GCC,GTC	A82V	XP_011523649.1
XM_011525349.1	490	Missense Mutation	GCC,GTC	A82V	XP_011523651.1
XM_011525351.1	490	Missense Mutation	GCC,GTC	A82V	XP_011523653.1
XM_011525353.1	490	Missense Mutation	GCC,GTC	A24V	XP_011523655.1

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