Product Details

SNP ID

rs187168146

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230208047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGGAGTTGACCAGATACATCTT[C/T]TTCTTTTCTTTCCTAAAAAGAAAGG

Phenotype

MIM: 604457 MIM: 608602

Polymorphism

C/T, 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	1082	Missense Mutation	AAA,AGA	K287R	NP_001171944.1
NM_004509.3	1082	Missense Mutation	AAA,AGA	K281R	NP_004500.3
NM_004510.3	1082	Missense Mutation	AAA,AGA	K281R	NP_004501.3
NM_080424.2	1082	Missense Mutation	AAA,AGA	K281R	NP_536349.2
XM_005246525.3	1082	Missense Mutation	AAA,AGA	K287R	XP_005246582.1
XM_006712487.3	1082	Missense Mutation	AAA,AGA	K287R	XP_006712550.1
XM_006712489.3	1082	Missense Mutation	AAA,AGA	K287R	XP_006712552.1
XM_011511088.2	1082	Missense Mutation	AAA,AGA	K287R	XP_011509390.1
XM_011511089.2	1082	Missense Mutation	AAA,AGA	K281R	XP_011509391.1
XM_011511090.2	1082	Missense Mutation	AAA,AGA	K287R	XP_011509392.1
XM_011511091.2	1082	Missense Mutation	AAA,AGA	K287R	XP_011509393.1
XM_011511092.2	1082	Missense Mutation	AAA,AGA	K78R	XP_011509394.1
XM_017003968.1	1082	Missense Mutation	AAA,AGA	K287R	XP_016859457.1
XM_017003969.1	1082	Missense Mutation	AAA,AGA	K287R	XP_016859458.1
XM_017003970.1	1082	Missense Mutation	AAA,AGA	K281R	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	1082	Intron			NP_001005176.1
NM_001278451.1	1082	Intron			NP_001265380.1
NM_001278452.1	1082	Intron			NP_001265381.1
NM_001278453.1	1082	Intron			NP_001265382.1
NM_007237.4	1082	Intron			NP_009168.4
XM_005246252.2	1082	Intron			XP_005246309.1
XM_005246253.2	1082	Intron			XP_005246310.1
XM_005246254.2	1082	Intron			XP_005246311.1
XM_005246255.2	1082	Intron			XP_005246312.1
XM_005246256.2	1082	Intron			XP_005246313.1
XM_006712223.3	1082	Intron			XP_006712286.1
XM_011510515.1	1082	Intron			XP_011508817.1
XM_011510516.1	1082	Intron			XP_011508818.1
XM_011510517.2	1082	Intron			XP_011508819.1
XM_011510518.2	1082	Intron			XP_011508820.1
XM_011510519.1	1082	Intron			XP_011508821.1
XM_011510520.1	1082	Intron			XP_011508822.1
XM_017003239.1	1082	Intron			XP_016858728.1
XM_017003240.1	1082	Intron			XP_016858729.1
XM_017003241.1	1082	Intron			XP_016858730.1
XM_017003242.1	1082	Intron			XP_016858731.1
XM_017003243.1	1082	Intron			XP_016858732.1
XM_017003244.1	1082	Intron			XP_016858733.1
XM_017003245.1	1082	Intron			XP_016858734.1
XM_017003246.1	1082	Intron			XP_016858735.1
XM_017003247.1	1082	Intron			XP_016858736.1
XM_017003248.1	1082	Intron			XP_016858737.1
XM_017003249.1	1082	Intron			XP_016858738.1
XM_017003250.1	1082	Intron			XP_016858739.1
XM_017003251.1	1082	Intron			XP_016858740.1
XM_017003252.1	1082	Intron			XP_016858741.1
XM_017003253.1	1082	Intron			XP_016858742.1

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