Product Details

SNP ID

rs200511236

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129009820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATGTGGCGGTAGCACTGTGCGT[A/C]GTAGGTTGTCTGAGACTTGACGAAC

Phenotype

MIM: 615587 MIM: 609288

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NUP188 PubMed Links

Gene Details

Gene

NUP188

Gene Name

nucleoporin 188

There are no transcripts associated with this gene.

Gene

SH3GLB2

Gene Name

SH3 domain containing GRB2 like endophilin B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287045.1	1045	Missense Mutation	GAC,TAC	D268Y	NP_001273974.1
NM_001287046.1	1045	Missense Mutation	GAC,TAC	D264Y	NP_001273975.1
NM_020145.3	1045	Missense Mutation	GAC,TAC	D264Y	NP_064530.1
XM_005252098.2	1045	Missense Mutation	GAC,TAC	D264Y	XP_005252155.1
XM_005252100.2	1045	Missense Mutation	GAC,TAC	D243Y	XP_005252157.1
XM_005252101.3	1045	UTR 5			XP_005252158.1
XM_006717188.2	1045	Missense Mutation	GAC,TAC	D292Y	XP_006717251.1
XM_006717189.2	1045	Missense Mutation	GAC,TAC	D288Y	XP_006717252.1
XM_006717190.1	1045	Missense Mutation	GAC,TAC	D292Y	XP_006717253.1
XM_006717191.1	1045	Missense Mutation	GAC,TAC	D268Y	XP_006717254.1

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