Product Details

SNP ID
rs142616668
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45407183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTCCTTGGAGGCGCTGACGGGT[C/T]CAGATACGGAGCTGTGGCTTATTCA
Phenotype
MIM: 107325 MIM: 126380 MIM: 607463
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CD3EAP PubMed Links

Gene Details

Gene
CD3EAP
Gene Name
CD3e molecule associated protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297590.1 686 Missense Mutation CCA,TCA P40S NP_001284519.1
NM_012099.1 686 Missense Mutation CCA,TCA P38S NP_036231.1
XM_017026180.1 686 UTR 5 XP_016881669.1
XM_017026181.1 686 UTR 5 XP_016881670.1
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_001166049.1 686 Intron NP_001159521.1
NM_001983.3 686 Intron NP_001974.1
NM_202001.2 686 Intron NP_973730.1
XM_005258634.1 686 Intron XP_005258691.1
XM_005258635.2 686 Intron XP_005258692.1
XM_005258636.4 686 Intron XP_005258693.1
XM_005258637.1 686 Intron XP_005258694.1
XM_011526610.2 686 Intron XP_011524912.1
XM_017026459.1 686 Intron XP_016881948.1
XM_017026460.1 686 Intron XP_016881949.1
XM_017026461.1 686 Intron XP_016881950.1
XM_017026462.1 686 Intron XP_016881951.1
XM_017026463.1 686 Intron XP_016881952.1
XM_017026464.1 686 Intron XP_016881953.1
XM_017026465.1 686 Intron XP_016881954.1
XM_017026466.1 686 Intron XP_016881955.1
Gene
PPP1R13L
Gene Name
protein phosphatase 1 regulatory subunit 13 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142502.1 686 Intron NP_001135974.1
NM_006663.3 686 Intron NP_006654.2
XM_017026177.1 686 Intron XP_016881666.1
XM_017026178.1 686 Intron XP_016881667.1
XM_017026179.1 686 Intron XP_016881668.1

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