Product Details

SNP ID

rs1049090

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:155263324 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTCACCCAAGGTCAGCCGCTTA[G/A]CTGGTTCATACTCTAGCATGCTTTC

Phenotype

MIM: 602989 MIM: 606913

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

CLK2 PubMed Links

Gene Details

Gene

CLK2

Gene Name

CDC like kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001294338.1	1603	Missense Mutation	GCT,GTT	A465V	NP_001281267.1
NM_001294339.1	1603	Missense Mutation	GCT,GTT	A237V	NP_001281268.1
NM_003993.3	1603	Missense Mutation	GCT,GTT	A464V	NP_003984.2
XM_005244878.1	1603	Missense Mutation	GCT,GTT	A463V	XP_005244935.1
XM_011509143.1	1603	Missense Mutation	GCT,GTT	A464V	XP_011507445.1
XM_011509144.1	1603	Intron			XP_011507446.1
XM_011509147.2	1603	Missense Mutation	GCT,GTT	A218V	XP_011507449.1
XM_017000241.1	1603	Missense Mutation	GCT,GTT	A218V	XP_016855730.1
XM_017000242.1	1603	Missense Mutation	GCT,GTT	A218V	XP_016855731.1
XM_017000243.1	1603	Missense Mutation	GCT,GTT	A218V	XP_016855732.1
XM_017000244.1	1603	Missense Mutation	GCT,GTT	A218V	XP_016855733.1

Gene

FAM189B

Gene Name

family with sequence similarity 189 member B

There are no transcripts associated with this gene.

Gene

SCAMP3

Gene Name

secretory carrier membrane protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005698.3	1603	Intron			NP_005689.2
NM_052837.2	1603	Intron			NP_443069.1
XM_006711105.3	1603	Intron			XP_006711168.1
XM_006711106.3	1603	Intron			XP_006711169.1
XM_016999991.1	1603	Intron			XP_016855480.1

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