Product Details

SNP ID

rs9479810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:149751359 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTTGAATTTTCTCTAAGAATTTAA[C/T]AGTCATCCCTTTTTTTCATAAATGC

Phenotype

MIM: 608141 MIM: 176851

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUP43 PubMed Links

Gene Details

Gene

NUP43

Gene Name

nucleoporin 43

There are no transcripts associated with this gene.

Gene

PCMT1

Gene Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252049.1		Intron			NP_001238978.1
NM_001252050.1		Intron			NP_001238979.1
NM_001252051.1		Intron			NP_001238980.1
NM_001252052.1		Intron			NP_001238981.1
NM_001252053.1		Intron			NP_001238982.1
NM_005389.2		Intron			NP_005380.2
XM_011535868.2		Intron			XP_011534170.1

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