Product Details

SNP ID

rs200997052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:68752096 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCAGCTGCTGTACTACCAGGCTC[C/T]GATGTCATCTGCCATGTTGCTGGTT

Phenotype

MIM: 607617

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUP107 PubMed Links

Gene Details

Gene

NUP107

Gene Name

nucleoporin 107

There are no transcripts associated with this gene.

Gene

SLC35E3

Gene Name

solute carrier family 35 member E3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018656.2	808	Missense Mutation	CCG,CTG	P193L	NP_061126.2
XM_005269006.3	808	Missense Mutation	CCG,CTG	P193L	XP_005269063.1
XM_017019584.1	808	Missense Mutation	CCG,CTG	P156L	XP_016875073.1

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