Product Details

SNP ID

rs201624890

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38682423 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACTTTTGATCTTTCCCTCTTTG[C/T]GGCTCAGAAAATGTACAGGTAAGGA

Phenotype

MIM: 607757 MIM: 615323 MIM: 607046

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CBY1 PubMed Links

Gene Details

Gene

CBY1

Gene Name

chibby family member 1, beta catenin antagonist

There are no transcripts associated with this gene.

Gene

JOSD1

Gene Name

Josephin domain containing 1

There are no transcripts associated with this gene.

Gene

TOMM22

Gene Name

translocase of outer mitochondrial membrane 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020243.4	248	Missense Mutation	GCG,GTG	A73V	NP_064628.1

View Full Product Details