Product Details

SNP ID
rs140862830
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45408198 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAAGGGCAAATTGGCAGGCAAGC[A/G]GCACCGCTATCGAGTCCTCAGCAGC
Phenotype
MIM: 107325 MIM: 126380 MIM: 607463
Polymorphism
A/G, 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 2445 Missense Mutation CAG,CGG Q79R NP_001284519.1
NM_012099.1 2445 Missense Mutation CAG,CGG Q77R NP_036231.1
XM_017026180.1 2445 UTR 5 XP_016881669.1
XM_017026181.1 2445 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 2445 UTR 3 NP_001159521.1
NM_001983.3 2445 UTR 3 NP_001974.1
NM_202001.2 2445 Intron NP_973730.1
XM_005258634.1 2445 Intron XP_005258691.1
XM_005258635.2 2445 Intron XP_005258692.1
XM_005258636.4 2445 Intron XP_005258693.1
XM_005258637.1 2445 Intron XP_005258694.1
XM_011526610.2 2445 Intron XP_011524912.1
XM_017026459.1 2445 Intron XP_016881948.1
XM_017026460.1 2445 UTR 3 XP_016881949.1
XM_017026461.1 2445 UTR 3 XP_016881950.1
XM_017026462.1 2445 UTR 3 XP_016881951.1
XM_017026463.1 2445 UTR 3 XP_016881952.1
XM_017026464.1 2445 UTR 3 XP_016881953.1
XM_017026465.1 2445 UTR 3 XP_016881954.1
XM_017026466.1 2445 UTR 3 XP_016881955.1
Gene
PPP1R13L
Gene Name
protein phosphatase 1 regulatory subunit 13 like
There are no transcripts associated with this gene.

View Full Product Details