Product Details

SNP ID

rs201871551

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230209991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCTTCTGGGTCATTTGGTTCTG[A/G]AGAATTATCTCTTATCTCTGACAAA

Phenotype

MIM: 604457 MIM: 608602

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SP110 PubMed Links

Gene Details

Gene

SP110

Gene Name

SP110 nuclear body protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001185015.1	1009	Missense Mutation	CCA,TCA	P263S	NP_001171944.1
NM_004509.3	1009	Missense Mutation	CCA,TCA	P257S	NP_004500.3
NM_004510.3	1009	Missense Mutation	CCA,TCA	P257S	NP_004501.3
NM_080424.2	1009	Missense Mutation	CCA,TCA	P257S	NP_536349.2
XM_005246525.3	1009	Missense Mutation	CCA,TCA	P263S	XP_005246582.1
XM_006712487.3	1009	Missense Mutation	CCA,TCA	P263S	XP_006712550.1
XM_006712489.3	1009	Missense Mutation	CCA,TCA	P263S	XP_006712552.1
XM_011511088.2	1009	Missense Mutation	CCA,TCA	P263S	XP_011509390.1
XM_011511089.2	1009	Missense Mutation	CCA,TCA	P257S	XP_011509391.1
XM_011511090.2	1009	Missense Mutation	CCA,TCA	P263S	XP_011509392.1
XM_011511091.2	1009	Missense Mutation	CCA,TCA	P263S	XP_011509393.1
XM_011511092.2	1009	Missense Mutation	CCA,TCA	P54S	XP_011509394.1
XM_017003968.1	1009	Missense Mutation	CCA,TCA	P263S	XP_016859457.1
XM_017003969.1	1009	Missense Mutation	CCA,TCA	P263S	XP_016859458.1
XM_017003970.1	1009	Missense Mutation	CCA,TCA	P257S	XP_016859459.1

Gene

SP140

Gene Name

SP140 nuclear body protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005176.2	1009	Intron			NP_001005176.1
NM_001278451.1	1009	Intron			NP_001265380.1
NM_001278452.1	1009	Intron			NP_001265381.1
NM_001278453.1	1009	Intron			NP_001265382.1
NM_007237.4	1009	Intron			NP_009168.4
XM_005246252.2	1009	Intron			XP_005246309.1
XM_005246253.2	1009	Intron			XP_005246310.1
XM_005246254.2	1009	Intron			XP_005246311.1
XM_005246255.2	1009	Intron			XP_005246312.1
XM_005246256.2	1009	Intron			XP_005246313.1
XM_006712223.3	1009	Intron			XP_006712286.1
XM_011510515.1	1009	Intron			XP_011508817.1
XM_011510516.1	1009	Intron			XP_011508818.1
XM_011510517.2	1009	Intron			XP_011508819.1
XM_011510518.2	1009	Intron			XP_011508820.1
XM_011510519.1	1009	Intron			XP_011508821.1
XM_011510520.1	1009	Intron			XP_011508822.1
XM_017003239.1	1009	Intron			XP_016858728.1
XM_017003240.1	1009	Intron			XP_016858729.1
XM_017003241.1	1009	Intron			XP_016858730.1
XM_017003242.1	1009	Intron			XP_016858731.1
XM_017003243.1	1009	Intron			XP_016858732.1
XM_017003244.1	1009	Intron			XP_016858733.1
XM_017003245.1	1009	Intron			XP_016858734.1
XM_017003246.1	1009	Intron			XP_016858735.1
XM_017003247.1	1009	Intron			XP_016858736.1
XM_017003248.1	1009	Intron			XP_016858737.1
XM_017003249.1	1009	Intron			XP_016858738.1
XM_017003250.1	1009	Intron			XP_016858739.1
XM_017003251.1	1009	Intron			XP_016858740.1
XM_017003252.1	1009	Intron			XP_016858741.1
XM_017003253.1	1009	Intron			XP_016858742.1

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