Product Details

SNP ID

rs201183243

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:155256732 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGTGAAGAGCAGGGCGACCAGC[A/G]GCATGAGCACGGATACTGCTGTGTT

Phenotype

MIM: 602989 MIM: 606913

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLK2 PubMed Links

Gene Details

Gene

CLK2

Gene Name

CDC like kinase 2

There are no transcripts associated with this gene.

Gene

FAM189B

Gene Name

family with sequence similarity 189 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267608.1	995	Intron			NP_001254537.1
NM_006589.2	995	Intron			NP_006580.2
NM_198264.1	995	Intron			NP_937995.1

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	995	Missense Mutation	CCG,CTG	P280L	NP_005689.2
NM_052837.2	995	Missense Mutation	CCG,CTG	P254L	NP_443069.1
XM_006711105.3	995	Missense Mutation	CCG,CTG	P266L	XP_006711168.1
XM_006711106.3	995	Missense Mutation	CCG,CTG	P213L	XP_006711169.1
XM_016999991.1	995	Missense Mutation	CGC,TGC	R193C	XP_016855480.1

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