Product Details

SNP ID

rs199519507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48466660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCAGGTACGTACCCAACCATGG[G/T]CTCGCAGGCCCTGCCCCCGGGGCCC

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

There are no transcripts associated with this gene.

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	1141	Intron			NP_009179.2
NM_016381.5	1141	Missense Mutation	GGC,GTC	G57V	NP_057465.1
NM_033629.4	1141	Missense Mutation	GGC,GTC	G2V	NP_338599.1

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