Product Details

SNP ID

rs148710464

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48626084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCGCAGGCCCTGCACATACAGC[A/G]GCTGCGCCCCAAACCTGAAGCCAGG

Phenotype

MIM: 124097 MIM: 604179 MIM: 607092

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DBP PubMed Links

Gene Details

Gene

DBP

Gene Name

D-box binding PAR bZIP transcription factor

There are no transcripts associated with this gene.

Gene

RPL18

Gene Name

ribosomal protein L18

There are no transcripts associated with this gene.

Gene

SPHK2

Gene Name

sphingosine kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204158.2	289	Missense Mutation	CAG,CGG	Q19R	NP_001191087.1
NM_001204159.2	289	Missense Mutation	CAG,CGG	Q78R	NP_001191088.1
NM_001204160.2	289	Missense Mutation	CAG,CGG	Q42R	NP_001191089.1
NM_001243876.1	289	Intron			NP_001230805.1
NM_020126.4	289	Missense Mutation	CAG,CGG	Q78R	NP_064511.2
XM_006723292.1	289	Missense Mutation	CAG,CGG	Q42R	XP_006723355.1
XM_011527133.1	289	Missense Mutation	CAG,CGG	Q78R	XP_011525435.1
XM_011527134.1	289	Missense Mutation	CAG,CGG	Q42R	XP_011525436.1
XM_017027008.1	289	Missense Mutation	CAG,CGG	Q140R	XP_016882497.1
XM_017027009.1	289	Intron			XP_016882498.1
XM_017027010.1	289	Missense Mutation	CAG,CGG	Q78R	XP_016882499.1

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