Product Details

SNP ID: rs201496629
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:48466993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCAACCTGCTCCTAGCCTTCCTGC[A/G]GCGCCAGCCACAGCCCTGGTGCCTG
Phenotype: MIM: 606605 MIM: 607290 MIM: 606609
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ATRIP PubMed Links

Gene Details

Gene: ATRIP
Gene Name: ATR interacting protein

There are no transcripts associated with this gene.

Gene: SHISA5
Gene Name: shisa family member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272065.1	1474	Intron			NP_001258994.1
NM_001272066.1	1474	Intron			NP_001258995.1
NM_001272067.1	1474	Intron			NP_001258996.1
NM_001272068.1	1474	Intron			NP_001258997.1
NM_001272082.1	1474	Intron			NP_001259011.1
NM_001272083.1	1474	Intron			NP_001259012.1
NM_016479.4	1474	Intron			NP_057563.3
XM_005265205.1	1474	Intron			XP_005265262.1
XM_006713188.2	1474	Intron			XP_006713251.1
XM_011533796.1	1474	Intron			XP_011532098.1

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	1474	Missense Mutation	CAG,CGG	Q103R	NP_009179.2
NM_016381.5	1474	Missense Mutation	CAG,CGG	Q168R	NP_057465.1
NM_033629.4	1474	Missense Mutation	CAG,CGG	Q113R	NP_338599.1

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