Product Details

SNP ID

rs6990298

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:67069040 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATCCTGAGCAAAGCTCCACTTCCT[C/T]AAATTAAGCCTTCCCCCAAATCACC

Phenotype

MIM: 604850 MIM: 611654

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COPS5 PubMed Links

Gene Details

Gene

COPS5

Gene Name

COP9 signalosome subunit 5

There are no transcripts associated with this gene.

Gene

CSPP1

Gene Name

centrosome and spindle pole associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291339.1		Intron			NP_001278268.1
NM_024790.6		Intron			NP_079066.5
XM_005251305.3		Intron			XP_005251362.2
XM_006716474.2		Intron			XP_006716537.2
XM_006716477.2		Intron			XP_006716540.2
XM_011517598.1		Intron			XP_011515900.1
XM_011517599.1		Intron			XP_011515901.1
XM_011517600.1		Intron			XP_011515902.1
XM_011517601.1		Intron			XP_011515903.1
XM_011517602.1		Intron			XP_011515904.1
XM_011517603.1		Intron			XP_011515905.1
XM_011517607.1		Intron			XP_011515909.1
XM_011517608.1		Intron			XP_011515910.1
XM_011517609.1		Intron			XP_011515911.1
XM_011517611.2		Intron			XP_011515913.1
XM_017013847.1		Intron			XP_016869336.1
XM_017013848.1		Intron			XP_016869337.1
XM_017013849.1		Intron			XP_016869338.1
XM_017013850.1		Intron			XP_016869339.1
XM_017013851.1		Intron			XP_016869340.1
XM_017013852.1		Intron			XP_016869341.1
XM_017013853.1		Intron			XP_016869342.1
XM_017013854.1		Intron			XP_016869343.1
XM_017013855.1		Intron			XP_016869344.1
XM_017013856.1		Intron			XP_016869345.1
XM_017013857.1		Intron			XP_016869346.1
XM_017013858.1		Intron			XP_016869347.1
XM_017013859.1		Intron			XP_016869348.1

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