Product Details

SNP ID

rs191878812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:41342426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCCTTGAAAGGCTACATTAAAC[A/C]TGAGGCAAGAAAAGGAAATGAGAAT

Phenotype

MIM: 612818 MIM: 606020

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NUSAP1 PubMed Links

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	252	Missense Mutation	CAT,CCT	H45P	NP_001230071.1
NM_001243143.1	252	Missense Mutation	CAT,CCT	H45P	NP_001230072.1
NM_001243144.1	252	Intron			NP_001230073.1
NM_001301136.1	252	Missense Mutation	CAT,CCT	H45P	NP_001288065.1
NM_016359.4	252	Missense Mutation	CAT,CCT	H45P	NP_057443.2
NM_018454.7	252	Missense Mutation	CAT,CCT	H45P	NP_060924.4
XM_005254428.2	252	Missense Mutation	CAT,CCT	H45P	XP_005254485.1
XM_005254430.4	252	Missense Mutation	CAT,CCT	H45P	XP_005254487.1
XM_005254431.2	252	Missense Mutation	CAT,CCT	H45P	XP_005254488.1
XM_006720559.2	252	Missense Mutation	CAT,CCT	H45P	XP_006720622.1
XM_006720560.3	252	Missense Mutation	CAT,CCT	H45P	XP_006720623.1
XM_006720561.2	252	Missense Mutation	CAT,CCT	H45P	XP_006720624.1
XM_006720562.2	252	Missense Mutation	CAT,CCT	H45P	XP_006720625.1
XM_006720563.2	252	Missense Mutation	CAT,CCT	H45P	XP_006720626.1
XM_017022294.1	252	Missense Mutation	CAT,CCT	H45P	XP_016877783.1
XM_017022295.1	252	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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