Product Details

SNP ID

rs17455475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129009230 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGGCAGAGCGAGGCCTCCCCCGGA[A/G]GGGCCAGGCTGGCCACAGAGGGCAC

Phenotype

MIM: 615587 MIM: 609288

Polymorphism

A/G, Transition 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	1211	Missense Mutation	CCT,CTT	P328L	NP_001273974.1
NM_001287046.1	1211	Missense Mutation	CCT,CTT	P319L	NP_001273975.1
NM_020145.3	1211	Missense Mutation	CCT,CTT	P319L	NP_064530.1
XM_005252098.2	1211	Missense Mutation	CCT,CTT	P324L	XP_005252155.1
XM_005252100.2	1211	Missense Mutation	CCT,CTT	P303L	XP_005252157.1
XM_005252101.3	1211	Missense Mutation	CCT,CTT	P49L	XP_005252158.1
XM_006717188.2	1211	Missense Mutation	CCT,CTT	P352L	XP_006717251.1
XM_006717189.2	1211	Missense Mutation	CCT,CTT	P348L	XP_006717252.1
XM_006717190.1	1211	Missense Mutation	CCT,CTT	P347L	XP_006717253.1
XM_006717191.1	1211	Missense Mutation	CCT,CTT	P323L	XP_006717254.1

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