Product Details

SNP ID

rs142847094

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:20313605 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTGATACTGACGATTGCGCTCC[A/T]TAAGTTTCTCAGAGATGTCACTGAA

Phenotype

MIM: 608249

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CCNB1IP1 PubMed Links

Gene Details

Gene

CCNB1IP1

Gene Name

cyclin B1 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021178.4	983	Missense Mutation	AAG,ATG	K165M	NP_067001.3
NM_182849.2	983	Missense Mutation	AAG,ATG	K165M	NP_878269.1
NM_182852.3	983	Missense Mutation	AAG,ATG	K165M	NP_878272.1

Gene

TTC5

Gene Name

tetratricopeptide repeat domain 5

There are no transcripts associated with this gene.

View Full Product Details