Product Details

SNP ID
rs143849673
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:43305085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCGCGGCTTCTCCAAGCCCTCGG[A/T]CCTCGTGGGCGTCTTCTCCTGCGTG
Phenotype
MIM: 600222
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TIE1 PubMed Links

Gene Details

Gene
TIE1
Gene Name
tyrosine kinase with immunoglobulin like and EGF like domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253357.1 387 Missense Mutation GAC,GTC D53V NP_001240286.1
NM_005424.4 387 Missense Mutation GAC,GTC D98V NP_005415.1
XM_005271163.1 387 Missense Mutation GAC,GTC D98V XP_005271220.1
XM_006710869.1 387 UTR 5 XP_006710932.1
XM_017002207.1 387 Missense Mutation GAC,GTC D98V XP_016857696.1

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