Product Details

SNP ID

rs142344804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:9021092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGACACTTTGGAACGTAGCAATC[A/G]GATGAACGATCTTGGAAACATCTCT

Phenotype

MIM: 611747

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SCUBE2 PubMed Links

Gene Details

Gene

SCUBE2

Gene Name

signal peptide, CUB domain and EGF like domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170690.1	3111	Nonsense Mutation	CGA,TGA	R793*	NP_001164161.1
NM_020974.2	3111	Nonsense Mutation	CGA,TGA	R957*	NP_066025.2
XM_005253032.4	3111	Nonsense Mutation	CGA,TGA	R1014*	XP_005253089.2
XM_005253033.4	3111	Nonsense Mutation	CGA,TGA	R985*	XP_005253090.2
XM_005253034.4	3111	Nonsense Mutation	CGA,TGA	R973*	XP_005253091.2
XM_005253035.4	3111	Intron			XP_005253092.2
XM_005253036.4	3111	Nonsense Mutation	CGA,TGA	R905*	XP_005253093.2
XM_005253037.4	3111	Nonsense Mutation	CGA,TGA	R859*	XP_005253094.2
XM_011520246.2	3111	Nonsense Mutation	CGA,TGA	R948*	XP_011518548.1
XM_011520247.2	3111	Nonsense Mutation	CGA,TGA	R946*	XP_011518549.1
XM_011520248.2	3111	Intron			XP_011518550.1
XM_017018080.1	3111	Nonsense Mutation	CGA,TGA	R944*	XP_016873569.1
XM_017018081.1	3111	Nonsense Mutation	CGA,TGA	R878*	XP_016873570.1
XM_017018082.1	3111	Intron			XP_016873571.1

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