Product Details

SNP ID
rs138092169
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:53461562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGACTTCCAGCTGTGTTTCTTC[C/G]TAATACAATATCTTTACAGTTATAC
Phenotype
MIM: 607686 MIM: 609732
Polymorphism
C/G, Transversion 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 2428 Intron NP_001128409.1
NM_001134938.1 2428 Intron NP_001128410.1
NM_030917.3 2428 Intron NP_112179.2
XM_005265769.4 2428 UTR 3 XP_005265826.1
XM_005265773.4 2428 UTR 3 XP_005265830.1
XM_005265774.4 2428 UTR 3 XP_005265831.1
XM_005265778.4 2428 UTR 3 XP_005265835.1
XM_005265779.4 2428 UTR 3 XP_005265836.1
XM_005265781.4 2428 UTR 3 XP_005265838.1
XM_005265782.4 2428 UTR 3 XP_005265839.1
XM_017008662.1 2428 UTR 3 XP_016864151.1
XM_017008663.1 2428 UTR 3 XP_016864152.1
XM_017008664.1 2428 UTR 3 XP_016864153.1
XM_017008665.1 2428 UTR 3 XP_016864154.1
XM_017008666.1 2428 UTR 3 XP_016864155.1
XM_017008667.1 2428 UTR 3 XP_016864156.1
XM_017008668.1 2428 UTR 3 XP_016864157.1
XM_017008669.1 2428 UTR 3 XP_016864158.1
XM_017008670.1 2428 UTR 3 XP_016864159.1
XM_017008671.1 2428 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 2428 Missense Mutation CGA,GGA R642G NP_001119800.1
NM_032622.2 2428 Missense Mutation CGA,GGA R546G NP_116011.2
XM_005265785.4 2428 Nonsense Mutation CGA,GGA R642G XP_005265842.1
XM_017008776.1 2428 Nonsense Mutation CGA,GGA R642G XP_016864265.1

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