Product Details

SNP ID

rs11556731

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29813461 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCAGCCCCACCTGAACCAGCCC[C/G]AGAGCCTGCTCCCCAACCAGACCCC

Phenotype

MIM: 603213 MIM: 600999 MIM: 605088 MIM: 612033 MIM: 614386

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

KIF22 PubMed Links

Additional Information

For this assay, SNP(s) [rs79182085] 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

KIF22

Gene Name

kinesin family member 22

There are no transcripts associated with this gene.

Gene

MAZ

Gene Name

MYC associated zinc finger protein

There are no transcripts associated with this gene.

Gene

MVP

Gene Name

major vault protein

There are no transcripts associated with this gene.

Gene

PAGR1

Gene Name

PAXIP1 associated glutamate rich protein 1

There are no transcripts associated with this gene.

Gene

PRRT2

Gene Name

proline rich transmembrane protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256442.1	703	Missense Mutation	CCA,CGA	P136R	NP_001243371.1
NM_001256443.1	703	Missense Mutation	CCA,CGA	P136R	NP_001243372.1
NM_145239.2	703	Missense Mutation	CCA,CGA	P136R	NP_660282.2
XM_011545715.2	703	Missense Mutation	CCA,CGA	P136R	XP_011544017.1
XM_011545716.2	703	Missense Mutation	CCA,CGA	P136R	XP_011544018.1
XM_017022887.1	703	Missense Mutation	CCA,CGA	P136R	XP_016878376.1
XM_017022888.1	703	Missense Mutation	CCA,CGA	P136R	XP_016878377.1
XM_017022889.1	703	Missense Mutation	CCA,CGA	P136R	XP_016878378.1

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