Product Details

SNP ID
rs148656966
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:72205359 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTTCTGTATACTTGGAGGCTTC[A/G]CCACTGCTTTCCTCCACCCCTTCTT
Phenotype
MIM: 300687 MIM: 300252
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ERCC6L PubMed Links

Gene Details

Gene
ERCC6L
Gene Name
ERCC excision repair 6 like, spindle assembly checkpoint helicase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017669.2 3505 Silent Mutation GGC,GGT G1136G NP_060139.2
Gene
PIN4
Gene Name
peptidylprolyl cis/trans isomerase, NIMA-interacting 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170747.1 3505 Intron NP_001164218.1
NM_006223.3 3505 Intron NP_006214.2

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