Product Details

SNP ID

rs143094813

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64341644 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGGTGCTGGCACTGTCTGGGCCA[G/T]ATCCTGGGGAGCTGGCACCTGCCGA

Phenotype

MIM: 611205

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CCDC88B PubMed Links

Additional Information

For this assay, SNP(s) [rs647152] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CCDC88B

Gene Name

coiled-coil domain containing 88B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032251.5	639	Missense Mutation	GAT,TAT	D193Y	NP_115627.6
XM_006718519.3	639	Missense Mutation	GAT,TAT	D193Y	XP_006718582.1
XM_011544957.2	639	Missense Mutation	GAT,TAT	D193Y	XP_011543259.1
XM_011544959.2	639	Missense Mutation	GAT,TAT	D193Y	XP_011543261.1
XM_011544960.2	639	Missense Mutation	GAT,TAT	D193Y	XP_011543262.1
XM_011544962.2	639	Intron			XP_011543264.1
XM_017017601.1	639	Missense Mutation	GAT,TAT	D193Y	XP_016873090.1

Gene

MIR7155

Gene Name

microRNA 7155

There are no transcripts associated with this gene.

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