Product Details

SNP ID

rs11555649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1987567 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGCTGGAAGCGGTTGATGCTGC[A/C]CTCCTTCCCACGCAGGCAGCAGCGG

Phenotype

MIM: 608531 MIM: 602214

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BTBD2 PubMed Links

Gene Details

Gene

BTBD2

Gene Name

BTB domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017797.3	480	Missense Mutation	GGC,TGC	G372C	NP_060267.2
XM_005259593.1	480	Missense Mutation	GGC,TGC	G224C	XP_005259650.1
XM_011528127.1	480	Missense Mutation	GGC,TGC	G51C	XP_011526429.1

Gene

CSNK1G2

Gene Name

casein kinase 1 gamma 2

There are no transcripts associated with this gene.

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