Product Details

SNP ID

rs132858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45166854 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGGAAAGTGTATTTATTTCTCATC[C/T]TTTATATTTTAGAATCTTGGACTTT

Phenotype

MIM: 604646

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUP50 PubMed Links

Gene Details

Gene

NUP50

Gene Name

nucleoporin 50

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007172.3		Intron			NP_009103.2
NM_153645.2		Intron			NP_705931.1
XM_005261312.1		Intron			XP_005261369.1
XM_005261314.1		Intron			XP_005261371.1
XM_006724103.1		Intron			XP_006724166.1
XM_006724104.1		Intron			XP_006724167.1
XM_011529833.1		Intron			XP_011528135.1
XM_017028537.1		Intron			XP_016884026.1
XM_017028538.1		Intron			XP_016884027.1

Gene

NUP50-AS1

Gene Name

NUP50 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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