Product Details

SNP ID
rs35505637
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45406688 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCTACAGGGTTGCCTGAGGTGTG[C/G]GTCCCAGGATGGAGGAGCCCCAGGC
Phenotype
MIM: 107325 MIM: 126380 MIM: 607463
Polymorphism
C/G, Transversion 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_001297590.1 560 UTR 5 NP_001284519.1
NM_012099.1 560 UTR 5 NP_036231.1
XM_017026180.1 560 UTR 5 XP_016881669.1
XM_017026181.1 560 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_001166049.1 560 Intron NP_001159521.1
NM_001983.3 560 Intron NP_001974.1
NM_202001.2 560 Intron NP_973730.1
XM_005258634.1 560 Intron XP_005258691.1
XM_005258635.2 560 Intron XP_005258692.1
XM_005258636.4 560 Intron XP_005258693.1
XM_005258637.1 560 Intron XP_005258694.1
XM_011526610.2 560 Intron XP_011524912.1
XM_017026459.1 560 Intron XP_016881948.1
XM_017026460.1 560 Intron XP_016881949.1
XM_017026461.1 560 Intron XP_016881950.1
XM_017026462.1 560 Intron XP_016881951.1
XM_017026463.1 560 Intron XP_016881952.1
XM_017026464.1 560 Intron XP_016881953.1
XM_017026465.1 560 Intron XP_016881954.1
XM_017026466.1 560 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_001142502.1 560 Intron NP_001135974.1
NM_006663.3 560 Intron NP_006654.2
XM_017026177.1 560 Intron XP_016881666.1
XM_017026178.1 560 Intron XP_016881667.1
XM_017026179.1 560 Intron XP_016881668.1

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