Product Details

SNP ID

rs6930636

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:53497474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCATTCTTTAATCATCCAAAAT[C/G]CATGTATAAAATATAGAACAAACCC

Phenotype

MIM: 606857

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GCLC PubMed Links

Gene Details

Gene

GCLC

Gene Name

glutamate-cysteine ligase catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197115.1	3566	UTR 3			NP_001184044.1
NM_001498.3	3566	UTR 3			NP_001489.1
XM_017010749.1	3566	Intron			XP_016866238.1

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