Product Details

SNP ID

rs2238686

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45469798 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCGAAGGGCAACCAGCCAGGTGGTC[C/T]CCAGGAGCTCCGCCCCCTCTGGGTT

Phenotype

MIM: 126380 MIM: 164772

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166049.1		Intron			NP_001159521.1
NM_001983.3		Intron			NP_001974.1
NM_202001.2		Intron			NP_973730.1
XM_005258634.1		Intron			XP_005258691.1
XM_005258635.2		Intron			XP_005258692.1
XM_005258636.4		Intron			XP_005258693.1
XM_005258637.1		Intron			XP_005258694.1
XM_011526610.2		Intron			XP_011524912.1
XM_017026459.1		Intron			XP_016881948.1
XM_017026460.1		Intron			XP_016881949.1
XM_017026461.1		Intron			XP_016881950.1
XM_017026462.1		Intron			XP_016881951.1
XM_017026463.1		Intron			XP_016881952.1
XM_017026464.1		Intron			XP_016881953.1
XM_017026465.1		Intron			XP_016881954.1
XM_017026466.1		Intron			XP_016881955.1

Gene

FOSB

Gene Name

FosB proto-oncogene, AP-1 transcription factor subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114171.1		Intron			NP_001107643.1
NM_006732.2		Intron			NP_006723.2
XM_005258691.1		Intron			XP_005258748.1

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