Product Details

SNP ID

rs139712566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:49515487 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCCATCATAACGTGAGTCAATG[A/T]TACGCTTCTGAGGTCTTCCTTTTTG

Phenotype

MIM: 609413

Polymorphism

A/T, Transversion 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	1884	Intron			NP_000115.1
NM_001277058.1	1884	Missense Mutation	AAC,ATC	N1011I	NP_001263987.1
NM_001277059.1	1884	Missense Mutation	AAC,ATC	N1011I	NP_001263988.1

Gene

PGBD3

Gene Name

piggyBac transposable element derived 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_170753.3	1884	Missense Mutation	AAC,ATC	N543I	NP_736609.2

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