Product Details

SNP ID

rs3026122

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5385446 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCATGTGGCTTTTAATTGACAGTC[A/G]CTCAGCCATTTCTAAGCAGATATAG

Phenotype

MIM: 602552 MIM: 603616

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

NUP88 PubMed Links

Additional Information

For this assay, SNP(s) [rs76828367] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

NUP88

Gene Name

nucleoporin 88

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320653.1	3123	UTR 3			NP_001307582.1
NM_002532.5	3123	UTR 3			NP_002523.2
XM_011523893.2	3123	Intron			XP_011522195.1
XM_017024694.1	3123	Intron			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	3123	UTR 3			NP_001077054.1
NM_001291581.1	3123	UTR 3			NP_001278510.1
NM_001291582.1	3123	Intron			NP_001278511.1
NM_004703.5	3123	UTR 3			NP_004694.2
XM_011524060.1	3123	UTR 3			XP_011522362.1
XM_017025294.1	3123	UTR 3			XP_016880783.1
XM_017025295.1	3123	UTR 3			XP_016880784.1

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