Product Details

SNP ID

rs115945163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230169148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAAGGAAGAGTCCAGAAACCGCC[A/G]TCATTGGCTTCATGAAAACCGAGCA

Phenotype

MIM: 604457

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	2181	Intron			NP_001171944.1
NM_004509.3	2181	Silent Mutation	GAC,GAT	D682D	NP_004500.3
NM_004510.3	2181	Intron			NP_004501.3
NM_080424.2	2181	Silent Mutation	GAC,GAT	D706D	NP_536349.2
XM_005246525.3	2181	Silent Mutation	GAC,GAT	D712D	XP_005246582.1
XM_006712487.3	2181	Silent Mutation	GAC,GAT	D688D	XP_006712550.1
XM_006712489.3	2181	Silent Mutation	GAC,GAT	D641D	XP_006712552.1
XM_011511088.2	2181	Silent Mutation	GAC,GAT	D738D	XP_011509390.1
XM_011511089.2	2181	Silent Mutation	GAC,GAT	D732D	XP_011509391.1
XM_011511090.2	2181	Silent Mutation	GAC,GAT	D688D	XP_011509392.1
XM_011511091.2	2181	Silent Mutation	GAC,GAT	D665D	XP_011509393.1
XM_011511092.2	2181	Silent Mutation	GAC,GAT	D529D	XP_011509394.1
XM_017003968.1	2181	Silent Mutation	GAC,GAT	D738D	XP_016859457.1
XM_017003969.1	2181	Intron			XP_016859458.1
XM_017003970.1	2181	Intron			XP_016859459.1

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