Product Details

SNP ID
rs1128335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:170997734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTTTCTACCATAAAGACACTGA[A/T]AGAAGATGACTCCAACCGACCATAC
Phenotype
MIM: 608438
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TLK1 PubMed Links

Gene Details

Gene
TLK1
Gene Name
tousled like kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136554.1 2575 Missense Mutation TAT,TTT Y617F NP_001130026.1
NM_001136555.1 2575 Missense Mutation TAT,TTT Y569F NP_001130027.1
NM_012290.4 2575 Missense Mutation TAT,TTT Y665F NP_036422.3
XM_011512238.2 2575 Missense Mutation TAT,TTT Y602F XP_011510540.1
XM_017005421.1 2575 Missense Mutation TAT,TTT Y448F XP_016860910.1
XM_017005422.1 2575 Missense Mutation TAT,TTT Y448F XP_016860911.1

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