Product Details

SNP ID
rs190097299
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:53500052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAATAGATATCATACCAGATGC[C/T]CTCTTCTTAATTAGCTTTAGGTAGT
Phenotype
MIM: 606857
Polymorphism
C/T, Transition 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 1804 Silent Mutation AGA,AGG R527R NP_001184044.1
NM_001498.3 1804 Silent Mutation AGA,AGG R565R NP_001489.1
XM_017010749.1 1804 Silent Mutation AGA,AGG R328R XP_016866238.1

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