Product Details

SNP ID

rs143904819

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:182383129 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAAAAAAAATAATTCTTCAGCA[A/G]TCTTAACAAAGACATCAAGATACAA

Phenotype

MIM: 138290

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GLUL PubMed Links

Gene Details

Gene

GLUL

Gene Name

glutamate-ammonia ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033044.3	3002	UTR 3			NP_001028216.1
NM_001033056.3	3002	UTR 3			NP_001028228.1
NM_002065.6	3002	UTR 3			NP_002056.2
XM_006711278.1	3002	UTR 3			XP_006711341.1

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