Product Details

SNP ID

rs141265672

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:53459425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAGCCTGCCCCTGAACAGGAGAG[C/G]ACCGAAGCTACACCTGCAGAATAGG

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	4173	Missense Mutation	AGC,AGG	S581R	NP_001128409.1
NM_001134938.1	4173	Missense Mutation	AGC,AGG	S513R	NP_001128410.1
NM_030917.3	4173	Missense Mutation	AGC,AGG	S587R	NP_112179.2
XM_005265769.4	4173	Missense Mutation	AGC,AGG	S596R	XP_005265826.1
XM_005265773.4	4173	Missense Mutation	AGC,AGG	S573R	XP_005265830.1
XM_005265774.4	4173	Missense Mutation	AGC,AGG	S564R	XP_005265831.1
XM_005265778.4	4173	Missense Mutation	GCA,GGA	A525G	XP_005265835.1
XM_005265779.4	4173	Missense Mutation	GCA,GGA	A516G	XP_005265836.1
XM_005265781.4	4173	Missense Mutation	AGC,AGG	S537R	XP_005265838.1
XM_005265782.4	4173	Missense Mutation	AGC,AGG	S528R	XP_005265839.1
XM_017008662.1	4173	Missense Mutation	AGC,AGG	S572R	XP_016864151.1
XM_017008663.1	4173	Missense Mutation	AGC,AGG	S560R	XP_016864152.1
XM_017008664.1	4173	Missense Mutation	AGC,AGG	S558R	XP_016864153.1
XM_017008665.1	4173	Missense Mutation	AGC,AGG	S551R	XP_016864154.1
XM_017008666.1	4173	Missense Mutation	AGC,AGG	S549R	XP_016864155.1
XM_017008667.1	4173	Missense Mutation	AGC,AGG	S545R	XP_016864156.1
XM_017008668.1	4173	Missense Mutation	AGC,AGG	S536R	XP_016864157.1
XM_017008669.1	4173	Missense Mutation	AGC,AGG	S522R	XP_016864158.1
XM_017008670.1	4173	Missense Mutation	GCA,GGA	A493G	XP_016864159.1
XM_017008671.1	4173	Missense Mutation	GCA,GGA	A466G	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	4173	Intron			NP_001119800.1
NM_032622.2	4173	Intron			NP_116011.2
XM_005265785.4	4173	UTR 3			XP_005265842.1
XM_017008776.1	4173	UTR 3			XP_016864265.1

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