Product Details

SNP ID

rs200403415

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230210007 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGTTCTGGAGAATTATCTCTTAT[C/G]TCTGACAAAAGAAATATAAGTCATT

Phenotype

MIM: 604457 MIM: 608602

Polymorphism

C/G, Transversion 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	993	Missense Mutation	GAC,GAG	D257E	NP_001171944.1
NM_004509.3	993	Missense Mutation	GAC,GAG	D251E	NP_004500.3
NM_004510.3	993	Missense Mutation	GAC,GAG	D251E	NP_004501.3
NM_080424.2	993	Missense Mutation	GAC,GAG	D251E	NP_536349.2
XM_005246525.3	993	Missense Mutation	GAC,GAG	D257E	XP_005246582.1
XM_006712487.3	993	Missense Mutation	GAC,GAG	D257E	XP_006712550.1
XM_006712489.3	993	Missense Mutation	GAC,GAG	D257E	XP_006712552.1
XM_011511088.2	993	Missense Mutation	GAC,GAG	D257E	XP_011509390.1
XM_011511089.2	993	Missense Mutation	GAC,GAG	D251E	XP_011509391.1
XM_011511090.2	993	Missense Mutation	GAC,GAG	D257E	XP_011509392.1
XM_011511091.2	993	Missense Mutation	GAC,GAG	D257E	XP_011509393.1
XM_011511092.2	993	Missense Mutation	GAC,GAG	D48E	XP_011509394.1
XM_017003968.1	993	Missense Mutation	GAC,GAG	D257E	XP_016859457.1
XM_017003969.1	993	Missense Mutation	GAC,GAG	D257E	XP_016859458.1
XM_017003970.1	993	Missense Mutation	GAC,GAG	D251E	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	993	Intron			NP_001005176.1
NM_001278451.1	993	Intron			NP_001265380.1
NM_001278452.1	993	Intron			NP_001265381.1
NM_001278453.1	993	Intron			NP_001265382.1
NM_007237.4	993	Intron			NP_009168.4
XM_005246252.2	993	Intron			XP_005246309.1
XM_005246253.2	993	Intron			XP_005246310.1
XM_005246254.2	993	Intron			XP_005246311.1
XM_005246255.2	993	Intron			XP_005246312.1
XM_005246256.2	993	Intron			XP_005246313.1
XM_006712223.3	993	Intron			XP_006712286.1
XM_011510515.1	993	Intron			XP_011508817.1
XM_011510516.1	993	Intron			XP_011508818.1
XM_011510517.2	993	Intron			XP_011508819.1
XM_011510518.2	993	Intron			XP_011508820.1
XM_011510519.1	993	Intron			XP_011508821.1
XM_011510520.1	993	Intron			XP_011508822.1
XM_017003239.1	993	Intron			XP_016858728.1
XM_017003240.1	993	Intron			XP_016858729.1
XM_017003241.1	993	Intron			XP_016858730.1
XM_017003242.1	993	Intron			XP_016858731.1
XM_017003243.1	993	Intron			XP_016858732.1
XM_017003244.1	993	Intron			XP_016858733.1
XM_017003245.1	993	Intron			XP_016858734.1
XM_017003246.1	993	Intron			XP_016858735.1
XM_017003247.1	993	Intron			XP_016858736.1
XM_017003248.1	993	Intron			XP_016858737.1
XM_017003249.1	993	Intron			XP_016858738.1
XM_017003250.1	993	Intron			XP_016858739.1
XM_017003251.1	993	Intron			XP_016858740.1
XM_017003252.1	993	Intron			XP_016858741.1
XM_017003253.1	993	Intron			XP_016858742.1

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