Product Details

SNP ID

rs150838067

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:77949195 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTGTGGCATTCCCTGGGGACTT[C/G]TCTGGGCATAATAGGCTGCTTGTTG

Phenotype

MIM: 603444 MIM: 613121

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FUBP1 PubMed Links

Gene Details

Gene

FUBP1

Gene Name

far upstream element binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303433.1	2052	Missense Mutation	ACA,AGA	T650R	NP_001290362.1
NM_003902.4	2052	Missense Mutation	ACA,AGA	T629R	NP_003893.2
XM_011542391.2	2052	Missense Mutation	ACA,AGA	T650R	XP_011540693.1
XM_011542392.2	2052	Missense Mutation	ACA,AGA	T649R	XP_011540694.1
XM_011542393.2	2052	Missense Mutation	ACA,AGA	T629R	XP_011540695.1
XM_017002739.1	2052	Missense Mutation	ACA,AGA	T650R	XP_016858228.1
XM_017002740.1	2052	Missense Mutation	ACA,AGA	T650R	XP_016858229.1
XM_017002741.1	2052	Missense Mutation	ACA,AGA	T628R	XP_016858230.1
XM_017002742.1	2052	Missense Mutation	ACA,AGA	T649R	XP_016858231.1
XM_017002743.1	2052	Missense Mutation	ACA,AGA	T628R	XP_016858232.1
XM_017002744.1	2052	Missense Mutation	ACA,AGA	T628R	XP_016858233.1

Gene

NEXN

Gene Name

nexilin F-actin binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172309.1	2052	Intron			NP_001165780.1
NM_144573.3	2052	Intron			NP_653174.3

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