Product Details

SNP ID

rs200368092

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89582760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACCACGGAGGTGGCACTGTCTT[G/T]CCATCTGAATCTTTCAGCTGGGATT

Phenotype

MIM: 613298

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TICRR PubMed Links

Gene Details

Gene

TICRR

Gene Name

TOPBP1 interacting checkpoint and replication regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308025.1	729	Missense Mutation	TTG,TTT	L243F	NP_001294954.1
NM_152259.3	729	Missense Mutation	TTG,TTT	L243F	NP_689472.3

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