Product Details

SNP ID
rs34296513
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:53461474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGTATGCTGGTGTTCCTTCAACA[A/G]TGGATTTGATGAAAAAAGGTTTGTT
Phenotype
MIM: 607686 MIM: 609732
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FIP1L1 PubMed Links

Gene Details

Gene
FIP1L1
Gene Name
factor interacting with PAPOLA and CPSF1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134937.1 2516 Intron NP_001128409.1
NM_001134938.1 2516 Intron NP_001128410.1
NM_030917.3 2516 Intron NP_112179.2
XM_005265769.4 2516 UTR 3 XP_005265826.1
XM_005265773.4 2516 UTR 3 XP_005265830.1
XM_005265774.4 2516 UTR 3 XP_005265831.1
XM_005265778.4 2516 UTR 3 XP_005265835.1
XM_005265779.4 2516 UTR 3 XP_005265836.1
XM_005265781.4 2516 UTR 3 XP_005265838.1
XM_005265782.4 2516 UTR 3 XP_005265839.1
XM_017008662.1 2516 UTR 3 XP_016864151.1
XM_017008663.1 2516 UTR 3 XP_016864152.1
XM_017008664.1 2516 UTR 3 XP_016864153.1
XM_017008665.1 2516 UTR 3 XP_016864154.1
XM_017008666.1 2516 UTR 3 XP_016864155.1
XM_017008667.1 2516 UTR 3 XP_016864156.1
XM_017008668.1 2516 UTR 3 XP_016864157.1
XM_017008669.1 2516 UTR 3 XP_016864158.1
XM_017008670.1 2516 UTR 3 XP_016864159.1
XM_017008671.1 2516 UTR 3 XP_016864160.1
Gene
LNX1
Gene Name
ligand of numb-protein X 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126328.2 2516 Missense Mutation ACT,ATT T671I NP_001119800.1
NM_032622.2 2516 Missense Mutation ACT,ATT T575I NP_116011.2
XM_005265785.4 2516 Missense Mutation ACT,ATT T671I XP_005265842.1
XM_017008776.1 2516 Missense Mutation ACT,ATT T671I XP_016864265.1

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