Product Details

SNP ID: rs144461944
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:48466535 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GACAGGGCAGGATTGTGCAGGGAAG[G/T]CCTGAGATGTGCTTCTGCCCACCCC
Phenotype: MIM: 606605 MIM: 607290 MIM: 606609
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: ATRIP PubMed Links

Gene Details

Gene: ATRIP
Gene Name: ATR interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271022.1	1016	Intron			NP_001257951.1
NM_001271023.1	1016	Intron			NP_001257952.1
NM_032166.3	1016	Intron			NP_115542.2
NM_130384.2	1016	Intron			NP_569055.1

Gene: SHISA5
Gene Name: shisa family member 5

There are no transcripts associated with this gene.

Gene: TREX1
Gene Name: three prime repair exonuclease 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007248.3	1016	Intron			NP_009179.2
NM_016381.5	1016	Missense Mutation	AGG,AGT	R15S	NP_057465.1
NM_033629.4	1016	Intron			NP_338599.1

View Full Product Details