Product Details

SNP ID

rs34014819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45406376 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCAGTGTGGCTGCCCCTTTAAGGAG[G/T]CGTTGCAACAAACCATATTGGACAG

Phenotype

MIM: 107325 MIM: 126380 MIM: 607463

Polymorphism

G/T, 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	248	UTR 5			NP_001284519.1
NM_012099.1	248	UTR 5			NP_036231.1
XM_017026180.1	248	UTR 5			XP_016881669.1
XM_017026181.1	248	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	248	Intron			NP_001159521.1
NM_001983.3	248	Intron			NP_001974.1
NM_202001.2	248	Intron			NP_973730.1
XM_005258634.1	248	Intron			XP_005258691.1
XM_005258635.2	248	Intron			XP_005258692.1
XM_005258636.4	248	Intron			XP_005258693.1
XM_005258637.1	248	Intron			XP_005258694.1
XM_011526610.2	248	Intron			XP_011524912.1
XM_017026459.1	248	Intron			XP_016881948.1
XM_017026460.1	248	Intron			XP_016881949.1
XM_017026461.1	248	Intron			XP_016881950.1
XM_017026462.1	248	Intron			XP_016881951.1
XM_017026463.1	248	Intron			XP_016881952.1
XM_017026464.1	248	Intron			XP_016881953.1
XM_017026465.1	248	Intron			XP_016881954.1
XM_017026466.1	248	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	248	Intron			NP_001135974.1
NM_006663.3	248	Intron			NP_006654.2
XM_017026177.1	248	Intron			XP_016881666.1
XM_017026178.1	248	Intron			XP_016881667.1
XM_017026179.1	248	Intron			XP_016881668.1

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