Product Details

SNP ID
rs3212989
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45408812 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GATTAACACTGAGCCTCTAGAAGAC[A/G]CAGTCCTGTCCCCGACCAAAAAGAG
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 1831 Missense Mutation ACA,GCA T284A NP_001284519.1
NM_012099.1 1831 Missense Mutation ACA,GCA T282A NP_036231.1
XM_017026180.1 1831 Missense Mutation ACA,GCA T104A XP_016881669.1
XM_017026181.1 1831 Missense Mutation ACA,GCA T104A 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 1831 UTR 3 NP_001159521.1
NM_001983.3 1831 UTR 3 NP_001974.1
NM_202001.2 1831 Intron NP_973730.1
XM_005258634.1 1831 Intron XP_005258691.1
XM_005258635.2 1831 Intron XP_005258692.1
XM_005258636.4 1831 Intron XP_005258693.1
XM_005258637.1 1831 Intron XP_005258694.1
XM_011526610.2 1831 Intron XP_011524912.1
XM_017026459.1 1831 Intron XP_016881948.1
XM_017026460.1 1831 UTR 3 XP_016881949.1
XM_017026461.1 1831 UTR 3 XP_016881950.1
XM_017026462.1 1831 UTR 3 XP_016881951.1
XM_017026463.1 1831 UTR 3 XP_016881952.1
XM_017026464.1 1831 UTR 3 XP_016881953.1
XM_017026465.1 1831 UTR 3 XP_016881954.1
XM_017026466.1 1831 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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