Product Details

SNP ID
rs149071715
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45408430 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTCGGTTCTGTGCCTTTGGGGG[C/T]AACCCACCAGTCACAGGGCCTAGGT
Phenotype
MIM: 107325 MIM: 126380 MIM: 607463
Polymorphism
C/T, 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 2213 Silent Mutation GGC,GGT G156G NP_001284519.1
NM_012099.1 2213 Silent Mutation GGC,GGT G154G NP_036231.1
XM_017026180.1 2213 UTR 5 XP_016881669.1
XM_017026181.1 2213 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 2213 UTR 3 NP_001159521.1
NM_001983.3 2213 UTR 3 NP_001974.1
NM_202001.2 2213 Intron NP_973730.1
XM_005258634.1 2213 Intron XP_005258691.1
XM_005258635.2 2213 Intron XP_005258692.1
XM_005258636.4 2213 Intron XP_005258693.1
XM_005258637.1 2213 Intron XP_005258694.1
XM_011526610.2 2213 Intron XP_011524912.1
XM_017026459.1 2213 Intron XP_016881948.1
XM_017026460.1 2213 UTR 3 XP_016881949.1
XM_017026461.1 2213 UTR 3 XP_016881950.1
XM_017026462.1 2213 UTR 3 XP_016881951.1
XM_017026463.1 2213 UTR 3 XP_016881952.1
XM_017026464.1 2213 UTR 3 XP_016881953.1
XM_017026465.1 2213 UTR 3 XP_016881954.1
XM_017026466.1 2213 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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