Product Details

SNP ID
rs148542036
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45407182 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCTCCTTGGAGGCGCTGACGGG[C/T]CCAGATACGGAGCTGTGGCTTATTC
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_001297590.1 685 Silent Mutation GGC,GGT G39G NP_001284519.1
NM_012099.1 685 Silent Mutation GGC,GGT G37G NP_036231.1
XM_017026180.1 685 UTR 5 XP_016881669.1
XM_017026181.1 685 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_001166049.1 685 Intron NP_001159521.1
NM_001983.3 685 Intron NP_001974.1
NM_202001.2 685 Intron NP_973730.1
XM_005258634.1 685 Intron XP_005258691.1
XM_005258635.2 685 Intron XP_005258692.1
XM_005258636.4 685 Intron XP_005258693.1
XM_005258637.1 685 Intron XP_005258694.1
XM_011526610.2 685 Intron XP_011524912.1
XM_017026459.1 685 Intron XP_016881948.1
XM_017026460.1 685 Intron XP_016881949.1
XM_017026461.1 685 Intron XP_016881950.1
XM_017026462.1 685 Intron XP_016881951.1
XM_017026463.1 685 Intron XP_016881952.1
XM_017026464.1 685 Intron XP_016881953.1
XM_017026465.1 685 Intron XP_016881954.1
XM_017026466.1 685 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_001142502.1 685 Intron NP_001135974.1
NM_006663.3 685 Intron NP_006654.2
XM_017026177.1 685 Intron XP_016881666.1
XM_017026178.1 685 Intron XP_016881667.1
XM_017026179.1 685 Intron XP_016881668.1

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