Product Details

SNP ID

rs200881715

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:67177712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGCCATCCCAAGTGCTAAAGTA[C/T]GAGAGCAAAGAATGGTAAGCAACCA

Phenotype

MIM: 604141 MIM: 611654

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARFGEF1 PubMed Links

Gene Details

Gene

ARFGEF1

Gene Name

ADP ribosylation factor guanine nucleotide exchange factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006421.4	3202	Intron			NP_006412.2
XM_005251134.4	3202	Intron			XP_005251191.1
XM_005251135.3	3202	Intron			XP_005251192.1
XM_005251136.3	3202	Intron			XP_005251193.1
XM_011517442.2	3202	Intron			XP_011515744.1

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	3202	Missense Mutation	CGA,TGA	R698*	NP_001278268.1
NM_024790.6	3202	Missense Mutation	CGA,TGA	R1043*	NP_079066.5
XM_005251305.3	3202	Nonsense Mutation	CGA,TGA	R1124*	XP_005251362.2
XM_006716474.2	3202	Nonsense Mutation	CGA,TGA	R1073*	XP_006716537.2
XM_006716477.2	3202	Nonsense Mutation	CGA,TGA	R947*	XP_006716540.2
XM_011517598.1	3202	Nonsense Mutation	CGA,TGA	R1138*	XP_011515900.1
XM_011517599.1	3202	Nonsense Mutation	CGA,TGA	R1130*	XP_011515901.1
XM_011517600.1	3202	Nonsense Mutation	CGA,TGA	R1116*	XP_011515902.1
XM_011517601.1	3202	Nonsense Mutation	CGA,TGA	R1103*	XP_011515903.1
XM_011517602.1	3202	Nonsense Mutation	CGA,TGA	R1089*	XP_011515904.1
XM_011517603.1	3202	Nonsense Mutation	CGA,TGA	R1056*	XP_011515905.1
XM_011517607.1	3202	Nonsense Mutation	CGA,TGA	R1048*	XP_011515909.1
XM_011517608.1	3202	Nonsense Mutation	CGA,TGA	R1021*	XP_011515910.1
XM_011517609.1	3202	Nonsense Mutation	CGA,TGA	R763*	XP_011515911.1
XM_011517611.2	3202	Nonsense Mutation	CGA,TGA	R483*	XP_011515913.1
XM_017013847.1	3202	Nonsense Mutation	CGA,TGA	R1091*	XP_016869336.1
XM_017013848.1	3202	Nonsense Mutation	CGA,TGA	R1083*	XP_016869337.1
XM_017013849.1	3202	Nonsense Mutation	CGA,TGA	R1070*	XP_016869338.1
XM_017013850.1	3202	Nonsense Mutation	CGA,TGA	R1056*	XP_016869339.1
XM_017013851.1	3202	Nonsense Mutation	CGA,TGA	R1007*	XP_016869340.1
XM_017013852.1	3202	Nonsense Mutation	CGA,TGA	R1005*	XP_016869341.1
XM_017013853.1	3202	Nonsense Mutation	CGA,TGA	R956*	XP_016869342.1
XM_017013854.1	3202	Nonsense Mutation	CGA,TGA	R939*	XP_016869343.1
XM_017013855.1	3202	Nonsense Mutation	CGA,TGA	R861*	XP_016869344.1
XM_017013856.1	3202	Nonsense Mutation	CGA,TGA	R830*	XP_016869345.1
XM_017013857.1	3202	Nonsense Mutation	CGA,TGA	R603*	XP_016869346.1
XM_017013858.1	3202	Nonsense Mutation	CGA,TGA	R552*	XP_016869347.1
XM_017013859.1	3202	Nonsense Mutation	CGA,TGA	R505*	XP_016869348.1

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