Product Details

SNP ID

rs11209

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5386260 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGATTTGCTTCACCATTTCCCTTAT[A/G]TGTTCACCCCTGTAAAATTGTAAAG

Phenotype

MIM: 602552 MIM: 603616

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NUP88 PubMed Links

Gene Details

Gene

NUP88

Gene Name

nucleoporin 88

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320653.1	2359	Silent Mutation	CAC,CAT	H740H	NP_001307582.1
NM_002532.5	2359	Silent Mutation	CAC,CAT	H724H	NP_002523.2
XM_011523893.2	2359	Silent Mutation	CAC,CAT	H609H	XP_011522195.1
XM_017024694.1	2359	Silent Mutation	CAC,CAT	H593H	XP_016880183.1

Gene

RABEP1

Gene Name

rabaptin, RAB GTPase binding effector protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083585.2	2359	UTR 3			NP_001077054.1
NM_001291581.1	2359	UTR 3			NP_001278510.1
NM_001291582.1	2359	Intron			NP_001278511.1
NM_004703.5	2359	UTR 3			NP_004694.2
XM_011524060.1	2359	Intron			XP_011522362.1
XM_017025294.1	2359	Intron			XP_016880783.1
XM_017025295.1	2359	Intron			XP_016880784.1

View Full Product Details