Product Details

SNP ID

rs7178777

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:41342390 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATAATAAGGTCTCTCTTGCAGGCAA[A/C]CAAGTTGTTAAAAGCCTTGAAAGGC

Phenotype

MIM: 612818 MIM: 606020

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

NUSAP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs7178634] 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

NUSAP1

Gene Name

nucleolar and spindle associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243142.1	216	Missense Mutation	AAC,ACC	N33T	NP_001230071.1
NM_001243143.1	216	Missense Mutation	AAC,ACC	N33T	NP_001230072.1
NM_001243144.1	216	Intron			NP_001230073.1
NM_001301136.1	216	Missense Mutation	AAC,ACC	N33T	NP_001288065.1
NM_016359.4	216	Missense Mutation	AAC,ACC	N33T	NP_057443.2
NM_018454.7	216	Missense Mutation	AAC,ACC	N33T	NP_060924.4
XM_005254428.2	216	Missense Mutation	AAC,ACC	N33T	XP_005254485.1
XM_005254430.4	216	Missense Mutation	AAC,ACC	N33T	XP_005254487.1
XM_005254431.2	216	Missense Mutation	AAC,ACC	N33T	XP_005254488.1
XM_006720559.2	216	Missense Mutation	AAC,ACC	N33T	XP_006720622.1
XM_006720560.3	216	Missense Mutation	AAC,ACC	N33T	XP_006720623.1
XM_006720561.2	216	Missense Mutation	AAC,ACC	N33T	XP_006720624.1
XM_006720562.2	216	Missense Mutation	AAC,ACC	N33T	XP_006720625.1
XM_006720563.2	216	Missense Mutation	AAC,ACC	N33T	XP_006720626.1
XM_017022294.1	216	Missense Mutation	AAC,ACC	N33T	XP_016877783.1
XM_017022295.1	216	UTR 5			XP_016877784.1

Gene

OIP5

Gene Name

Opa interacting protein 5

There are no transcripts associated with this gene.

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