Product Details

SNP ID

rs140739403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:9021908 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTCCTGATGGTTCTCAGATGCAT[A/G]GAGCCTGCCATCTCGAACTATGTCT

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	2973	Missense Mutation	CAT,TAT	H747Y	NP_001164161.1
NM_020974.2	2973	Missense Mutation	CAT,TAT	H911Y	NP_066025.2
XM_005253032.4	2973	Missense Mutation	CAT,TAT	H968Y	XP_005253089.2
XM_005253033.4	2973	Missense Mutation	CAT,TAT	H939Y	XP_005253090.2
XM_005253034.4	2973	Missense Mutation	CAT,TAT	H927Y	XP_005253091.2
XM_005253035.4	2973	Intron			XP_005253092.2
XM_005253036.4	2973	Missense Mutation	CAT,TAT	H859Y	XP_005253093.2
XM_005253037.4	2973	Missense Mutation	CAT,TAT	H813Y	XP_005253094.2
XM_011520246.2	2973	Missense Mutation	CAT,TAT	H902Y	XP_011518548.1
XM_011520247.2	2973	Missense Mutation	CAT,TAT	H900Y	XP_011518549.1
XM_011520248.2	2973	Intron			XP_011518550.1
XM_017018080.1	2973	Missense Mutation	CAT,TAT	H898Y	XP_016873569.1
XM_017018081.1	2973	Missense Mutation	CAT,TAT	H832Y	XP_016873570.1
XM_017018082.1	2973	Intron			XP_016873571.1

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