Product Details

SNP ID
rs143097395
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:53498836 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAGTAACTCTGGGCATTCACATA[A/C]TTCATTTGCAATTTGGTTACACTTC
Phenotype
MIM: 606857
Polymorphism
A/C, 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 1943 Missense Mutation GTA,TTA V574L NP_001184044.1
NM_001498.3 1943 Missense Mutation GTA,TTA V612L NP_001489.1
XM_017010749.1 1943 Missense Mutation GTA,TTA V375L XP_016866238.1

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