Product Details

SNP ID

rs199803769

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:230328793 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGTGTTTCACAAGTAGCAAATGA[G/T]ATGAACCATCTTCCTGCACACAGCC

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SP140L PubMed Links

Gene Details

Gene

SP140L

Gene Name

SP140 nuclear body protein like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308162.1	146	Intron			NP_001295091.1
NM_001308163.1	146	Intron			NP_001295092.1
NM_138402.4	146	Missense Mutation	GAG,GAT	E23D	NP_612411.4
XM_006712855.2	146	Missense Mutation	GAG,GAT	E23D	XP_006712918.1
XM_006712856.2	146	Missense Mutation	GAG,GAT	E23D	XP_006712919.1
XM_006712858.3	146	Intron			XP_006712921.1
XM_011512190.2	146	Missense Mutation	GAG,GAT	E23D	XP_011510492.1
XM_011512191.1	146	Missense Mutation	GAG,GAT	E23D	XP_011510493.1
XM_017005294.1	146	Missense Mutation	GAG,GAT	E23D	XP_016860783.1
XM_017005295.1	146	Missense Mutation	GAG,GAT	E23D	XP_016860784.1
XM_017005296.1	146	Missense Mutation	GAG,GAT	E23D	XP_016860785.1
XM_017005297.1	146	Intron			XP_016860786.1
XM_017005298.1	146	Missense Mutation	GAG,GAT	E23D	XP_016860787.1
XM_017005299.1	146	Intron			XP_016860788.1
XM_017005300.1	146	Missense Mutation	GAG,GAT	E23D	XP_016860789.1
XM_017005301.1	146	Missense Mutation	GAG,GAT	E23D	XP_016860790.1

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