Product Details

SNP ID

rs201387324

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45485716 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCAGAGACACCGTTCTCATTCGG[C/T]TTTGGCTTTGGATCCGGAGACTGCG

Phenotype

MIM: 126380 MIM: 603183

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERCC1 PubMed Links

Gene Details

Gene

ERCC1

Gene Name

ERCC excision repair 1, endonuclease non-catalytic subunit

There are no transcripts associated with this gene.

Gene

RTN2

Gene Name

reticulon 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005619.4	1860	Missense Mutation	ACC,GCC	T544A	NP_005610.1
NM_206900.2	1860	Missense Mutation	ACC,GCC	T471A	NP_996783.1
NM_206901.2	1860	Missense Mutation	ACC,GCC	T204A	NP_996784.1

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