Product Details

SNP ID

rs139547199

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:72205292 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTAGGCTTAGACGTCATTAACC[A/G]GCTGGACTTGTTTTCTGAAGACAGT

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	3572	Missense Mutation	CGG,TGG	R1159W	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	3572	Intron			NP_001164218.1
NM_006223.3	3572	Intron			NP_006214.2

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