Product Details

SNP ID
rs3212988
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45408886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGGAGCCAGAGGAGGGGGTGAC[A/G]GTTGAGTCTCAGCCACAGGTGAAGG
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 1757 Silent Mutation ACA,ACG T308T NP_001284519.1
NM_012099.1 1757 Silent Mutation ACA,ACG T306T NP_036231.1
XM_017026180.1 1757 Silent Mutation ACA,ACG T128T XP_016881669.1
XM_017026181.1 1757 Silent Mutation ACA,ACG T128T 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 1757 UTR 3 NP_001159521.1
NM_001983.3 1757 UTR 3 NP_001974.1
NM_202001.2 1757 Intron NP_973730.1
XM_005258634.1 1757 Intron XP_005258691.1
XM_005258635.2 1757 Intron XP_005258692.1
XM_005258636.4 1757 Intron XP_005258693.1
XM_005258637.1 1757 Intron XP_005258694.1
XM_011526610.2 1757 Intron XP_011524912.1
XM_017026459.1 1757 Intron XP_016881948.1
XM_017026460.1 1757 UTR 3 XP_016881949.1
XM_017026461.1 1757 UTR 3 XP_016881950.1
XM_017026462.1 1757 UTR 3 XP_016881951.1
XM_017026463.1 1757 UTR 3 XP_016881952.1
XM_017026464.1 1757 UTR 3 XP_016881953.1
XM_017026465.1 1757 UTR 3 XP_016881954.1
XM_017026466.1 1757 UTR 3 XP_016881955.1
Gene
PPP1R13L
Gene Name
protein phosphatase 1 regulatory subunit 13 like
There are no transcripts associated with this gene.

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