Product Details

SNP ID

rs201813523

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:49458904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATTTCTCAATAGTTCTCGGAAGA[C/T]ACAAGACTGTGATGCAGATAACTTG

Phenotype

MIM: 609413

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERCC6 PubMed Links

Gene Details

Gene

ERCC6

Gene Name

ERCC excision repair 6, chromatin remodeling factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000124.3	4569	Missense Mutation	ATC,GTC	I1465V	NP_000115.1
NM_001277058.1	4569	Intron			NP_001263987.1
NM_001277059.1	4569	Intron			NP_001263988.1

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