Product Details

SNP ID
rs141742404
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48469123 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGAATGCTCAGAGGGCCGCCTTC[A/G]GGGCATCCATGTAGGCCGGGTTGTA
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 1023 Intron NP_001258994.1
NM_001272066.1 1023 Missense Mutation CCG,CTG P205L NP_001258995.1
NM_001272067.1 1023 Missense Mutation CCG,CTG P205L NP_001258996.1
NM_001272068.1 1023 Missense Mutation CCG,CTG P205L NP_001258997.1
NM_001272082.1 1023 Missense Mutation CCG,CTG P133L NP_001259011.1
NM_001272083.1 1023 UTR 3 NP_001259012.1
NM_016479.4 1023 Intron NP_057563.3
XM_005265205.1 1023 Missense Mutation CCG,CTG P205L XP_005265262.1
XM_006713188.2 1023 Missense Mutation CCG,CTG P205L XP_006713251.1
XM_011533796.1 1023 Missense Mutation CCG,CTG P205L XP_011532098.1
Gene
TREX1
Gene Name
three prime repair exonuclease 1
There are no transcripts associated with this gene.

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