Product Details

SNP ID

rs1110216

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:9024413 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTTTGTTTGACATTATTTCAGGCA[A/T]CTGTAGGACAAAGATGATGATCCGT

Phenotype

MIM: 611747

Polymorphism

A/T, Transversion 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	2599	Intron			NP_001164161.1
NM_020974.2	2599	Intron			NP_066025.2
XM_005253032.4	2599	Intron			XP_005253089.2
XM_005253033.4	2599	Intron			XP_005253090.2
XM_005253034.4	2599	Intron			XP_005253091.2
XM_005253035.4	2599	Missense Mutation	GAT,GTT	D952V	XP_005253092.2
XM_005253036.4	2599	Intron			XP_005253093.2
XM_005253037.4	2599	Intron			XP_005253094.2
XM_011520246.2	2599	Intron			XP_011518548.1
XM_011520247.2	2599	Intron			XP_011518549.1
XM_011520248.2	2599	Intron			XP_011518550.1
XM_017018080.1	2599	Intron			XP_016873569.1
XM_017018081.1	2599	Intron			XP_016873570.1
XM_017018082.1	2599	Missense Mutation	GAT,GTT	D843V	XP_016873571.1

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