Product Details

SNP ID
rs2282695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45468703 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCTTCGGCAGTCCACCCACCGCCGC[C/G]GCCTCCCAGGTAAGTTTTTGATAGT
Phenotype
MIM: 126380 MIM: 164772
Polymorphism
C/G, Transversion 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_001166049.1 709 Intron NP_001159521.1
NM_001983.3 709 Intron NP_001974.1
NM_202001.2 709 Intron NP_973730.1
XM_005258634.1 709 Intron XP_005258691.1
XM_005258635.2 709 Intron XP_005258692.1
XM_005258636.4 709 Intron XP_005258693.1
XM_005258637.1 709 Intron XP_005258694.1
XM_011526610.2 709 Intron XP_011524912.1
XM_017026459.1 709 Intron XP_016881948.1
XM_017026460.1 709 Intron XP_016881949.1
XM_017026461.1 709 Intron XP_016881950.1
XM_017026462.1 709 Intron XP_016881951.1
XM_017026463.1 709 Intron XP_016881952.1
XM_017026464.1 709 Intron XP_016881953.1
XM_017026465.1 709 Intron XP_016881954.1
XM_017026466.1 709 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_001114171.1 709 Silent Mutation GCC,GCG A39A NP_001107643.1
NM_006732.2 709 Silent Mutation GCC,GCG A39A NP_006723.2
XM_005258691.1 709 Silent Mutation GCC,GCG A39A XP_005258748.1

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