Product Details

SNP ID

rs115052010

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230169146 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTCAAGGAAGAGTCCAGAAACCG[C/T]CGTCATTGGCTTCATGAAAACCGAG

Phenotype

MIM: 604457

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	2183	Intron			NP_001171944.1
NM_004509.3	2183	Missense Mutation	GAC,GGC	D683G	NP_004500.3
NM_004510.3	2183	Intron			NP_004501.3
NM_080424.2	2183	Missense Mutation	GAC,GGC	D707G	NP_536349.2
XM_005246525.3	2183	Missense Mutation	GAC,GGC	D713G	XP_005246582.1
XM_006712487.3	2183	Missense Mutation	GAC,GGC	D689G	XP_006712550.1
XM_006712489.3	2183	Missense Mutation	GAC,GGC	D642G	XP_006712552.1
XM_011511088.2	2183	Missense Mutation	GAC,GGC	D739G	XP_011509390.1
XM_011511089.2	2183	Missense Mutation	GAC,GGC	D733G	XP_011509391.1
XM_011511090.2	2183	Missense Mutation	GAC,GGC	D689G	XP_011509392.1
XM_011511091.2	2183	Missense Mutation	GAC,GGC	D666G	XP_011509393.1
XM_011511092.2	2183	Missense Mutation	GAC,GGC	D530G	XP_011509394.1
XM_017003968.1	2183	Missense Mutation	GAC,GGC	D739G	XP_016859457.1
XM_017003969.1	2183	Intron			XP_016859458.1
XM_017003970.1	2183	Intron			XP_016859459.1

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