Product Details

SNP ID
rs150994935
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45408178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCTCTGGCTCCCAGATCGTCAA[A/G]GGCAAATTGGCAGGCAAGCGGCACC
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 2465 Silent Mutation AAA,AAG K72K NP_001284519.1
NM_012099.1 2465 Silent Mutation AAA,AAG K70K NP_036231.1
XM_017026180.1 2465 UTR 5 XP_016881669.1
XM_017026181.1 2465 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 2465 UTR 3 NP_001159521.1
NM_001983.3 2465 UTR 3 NP_001974.1
NM_202001.2 2465 Intron NP_973730.1
XM_005258634.1 2465 Intron XP_005258691.1
XM_005258635.2 2465 Intron XP_005258692.1
XM_005258636.4 2465 Intron XP_005258693.1
XM_005258637.1 2465 Intron XP_005258694.1
XM_011526610.2 2465 Intron XP_011524912.1
XM_017026459.1 2465 Intron XP_016881948.1
XM_017026460.1 2465 UTR 3 XP_016881949.1
XM_017026461.1 2465 UTR 3 XP_016881950.1
XM_017026462.1 2465 UTR 3 XP_016881951.1
XM_017026463.1 2465 UTR 3 XP_016881952.1
XM_017026464.1 2465 UTR 3 XP_016881953.1
XM_017026465.1 2465 UTR 3 XP_016881954.1
XM_017026466.1 2465 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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