Product Details

SNP ID: rs146534560
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:72206095 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATAATGGGCCAAGGATTGCAATGA[C/T]GTAAAATCTCATCATCCTTTAGTTG
Phenotype: MIM: 300687 MIM: 300252
Polymorphism: C/T, 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	2769	Missense Mutation	CAT,CGT	H891R	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	2769	Intron			NP_001164218.1
NM_006223.3	2769	Intron			NP_006214.2

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