Product Details

SNP ID

rs139856475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:37253827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCGGCGCTCAGTACGGGCGATTG[A/G]CGTCTTTGGGCCGCTTCAGCTGCAC

Phenotype

MIM: 612679

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CELF4 PubMed Links

Gene Details

Gene

CELF4

Gene Name

CUGBP, Elav-like family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025087.1	1817	Missense Mutation	GCC,GTC	A481V	NP_001020258.1
NM_001025088.1	1817	Missense Mutation	GCC,GTC	A480V	NP_001020259.1
NM_001025089.1	1817	Missense Mutation	GCC,GTC	A444V	NP_001020260.1
NM_020180.3	1817	Missense Mutation	GCC,GTC	A482V	NP_064565.1
XM_005258308.3	1817	Missense Mutation	GCC,GTC	A480V	XP_005258365.1
XM_011526079.2	1817	Missense Mutation	GCC,GTC	A502V	XP_011524381.1
XM_011526081.2	1817	Missense Mutation	GCC,GTC	A501V	XP_011524383.1
XM_011526083.2	1817	Missense Mutation	GCC,GTC	A501V	XP_011524385.1
XM_011526084.2	1817	Missense Mutation	GCC,GTC	A500V	XP_011524386.1
XM_011526085.2	1817	Missense Mutation	GCC,GTC	A500V	XP_011524387.1
XM_011526086.2	1817	Missense Mutation	GCC,GTC	A491V	XP_011524388.1
XM_011526087.2	1817	Missense Mutation	GCC,GTC	A490V	XP_011524389.1
XM_011526090.2	1817	Missense Mutation	GCC,GTC	A481V	XP_011524392.1
XM_011526091.2	1817	Missense Mutation	GCC,GTC	A454V	XP_011524393.1
XM_011526092.2	1817	Missense Mutation	GCC,GTC	A453V	XP_011524394.1
XM_017025840.1	1817	Missense Mutation	GCC,GTC	A492V	XP_016881329.1
XM_017025841.1	1817	Missense Mutation	GCC,GTC	A481V	XP_016881330.1
XM_017025842.1	1817	Missense Mutation	GCC,GTC	A481V	XP_016881331.1
XM_017025843.1	1817	Missense Mutation	GCC,GTC	A480V	XP_016881332.1
XM_017025844.1	1817	Missense Mutation	GCC,GTC	A480V	XP_016881333.1
XM_017025845.1	1817	Missense Mutation	GCC,GTC	A479V	XP_016881334.1
XM_017025846.1	1817	Missense Mutation	GCC,GTC	A472V	XP_016881335.1
XM_017025847.1	1817	Missense Mutation	GCC,GTC	A471V	XP_016881336.1
XM_017025848.1	1817	Missense Mutation	GCC,GTC	A470V	XP_016881337.1
XM_017025849.1	1817	Missense Mutation	GCC,GTC	A469V	XP_016881338.1
XM_017025850.1	1817	Missense Mutation	GCC,GTC	A471V	XP_016881339.1
XM_017025851.1	1817	Missense Mutation	GCC,GTC	A470V	XP_016881340.1
XM_017025852.1	1817	Missense Mutation	GCC,GTC	A470V	XP_016881341.1
XM_017025853.1	1817	Missense Mutation	GCC,GTC	A453V	XP_016881342.1
XM_017025854.1	1817	Missense Mutation	GCC,GTC	A453V	XP_016881343.1
XM_017025855.1	1817	Missense Mutation	GCC,GTC	A452V	XP_016881344.1
XM_017025856.1	1817	Missense Mutation	GCC,GTC	A452V	XP_016881345.1
XM_017025857.1	1817	Intron			XP_016881346.1
XM_017025858.1	1817	Missense Mutation	GCC,GTC	A452V	XP_016881347.1
XM_017025859.1	1817	Missense Mutation	GCC,GTC	A451V	XP_016881348.1
XM_017025860.1	1817	Missense Mutation	GCC,GTC	A443V	XP_016881349.1
XM_017025861.1	1817	Missense Mutation	GCC,GTC	A443V	XP_016881350.1
XM_017025862.1	1817	Missense Mutation	GCC,GTC	A443V	XP_016881351.1
XM_017025863.1	1817	Missense Mutation	GCC,GTC	A442V	XP_016881352.1
XM_017025864.1	1817	Missense Mutation	GCC,GTC	A442V	XP_016881353.1
XM_017025865.1	1817	Missense Mutation	GCC,GTC	A442V	XP_016881354.1
XM_017025866.1	1817	Missense Mutation	GCC,GTC	A358V	XP_016881355.1
XM_017025867.1	1817	Missense Mutation	GCC,GTC	A357V	XP_016881356.1
XM_017025868.1	1817	Missense Mutation	GCC,GTC	A349V	XP_016881357.1
XM_017025869.1	1817	Missense Mutation	GCC,GTC	A348V	XP_016881358.1
XM_017025870.1	1817	Missense Mutation	GCC,GTC	A348V	XP_016881359.1
XM_017025871.1	1817	Missense Mutation	GCC,GTC	A321V	XP_016881360.1
XM_017025872.1	1817	Missense Mutation	GCC,GTC	A320V	XP_016881361.1

View Full Product Details