Product Details

SNP ID

rs144066858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230169154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGAGTCCAGAAACCGCCGTCATT[A/G]GCTTCATGAAAACCGAGCACGTCTT

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	2175	Intron			NP_001171944.1
NM_004509.3	2175	Silent Mutation	GCC,GCT	A680A	NP_004500.3
NM_004510.3	2175	Intron			NP_004501.3
NM_080424.2	2175	Silent Mutation	GCC,GCT	A704A	NP_536349.2
XM_005246525.3	2175	Silent Mutation	GCC,GCT	A710A	XP_005246582.1
XM_006712487.3	2175	Silent Mutation	GCC,GCT	A686A	XP_006712550.1
XM_006712489.3	2175	Silent Mutation	GCC,GCT	A639A	XP_006712552.1
XM_011511088.2	2175	Silent Mutation	GCC,GCT	A736A	XP_011509390.1
XM_011511089.2	2175	Silent Mutation	GCC,GCT	A730A	XP_011509391.1
XM_011511090.2	2175	Silent Mutation	GCC,GCT	A686A	XP_011509392.1
XM_011511091.2	2175	Silent Mutation	GCC,GCT	A663A	XP_011509393.1
XM_011511092.2	2175	Silent Mutation	GCC,GCT	A527A	XP_011509394.1
XM_017003968.1	2175	Silent Mutation	GCC,GCT	A736A	XP_016859457.1
XM_017003969.1	2175	Intron			XP_016859458.1
XM_017003970.1	2175	Intron			XP_016859459.1

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