Product Details

SNP ID

rs117289933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45407107 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTGCTGCAGATGCTGCTCGGTT[C/G]TCTTGTCCCCCCAACTTTACCGCGA

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	610	Missense Mutation	TTC,TTG	F14L	NP_001284519.1
NM_012099.1	610	Missense Mutation	TTC,TTG	F12L	NP_036231.1
XM_017026180.1	610	UTR 5			XP_016881669.1
XM_017026181.1	610	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	610	Intron			NP_001159521.1
NM_001983.3	610	Intron			NP_001974.1
NM_202001.2	610	Intron			NP_973730.1
XM_005258634.1	610	Intron			XP_005258691.1
XM_005258635.2	610	Intron			XP_005258692.1
XM_005258636.4	610	Intron			XP_005258693.1
XM_005258637.1	610	Intron			XP_005258694.1
XM_011526610.2	610	Intron			XP_011524912.1
XM_017026459.1	610	Intron			XP_016881948.1
XM_017026460.1	610	Intron			XP_016881949.1
XM_017026461.1	610	Intron			XP_016881950.1
XM_017026462.1	610	Intron			XP_016881951.1
XM_017026463.1	610	Intron			XP_016881952.1
XM_017026464.1	610	Intron			XP_016881953.1
XM_017026465.1	610	Intron			XP_016881954.1
XM_017026466.1	610	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	610	Intron			NP_001135974.1
NM_006663.3	610	Intron			NP_006654.2
XM_017026177.1	610	Intron			XP_016881666.1
XM_017026178.1	610	Intron			XP_016881667.1
XM_017026179.1	610	Intron			XP_016881668.1

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