Product Details

SNP ID

rs3747421

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:14009058 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACGCTTCATCTCGGCCTGGCGCCGC[A/T]CACCAGGCCTCTCAGTTGGGGCTTC

Phenotype

MIM: 300962

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GEMIN8 PubMed Links

Gene Details

Gene

GEMIN8

Gene Name

gem nuclear organelle associated protein 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042479.1	927	Missense Mutation	GAG,GTG	E195V	NP_001035944.1
NM_001042480.1	927	Missense Mutation	GAG,GTG	E195V	NP_001035945.1
NM_017856.2	927	Missense Mutation	GAG,GTG	E195V	NP_060326.1
XM_005274555.2	927	Missense Mutation	GAG,GTG	E296V	XP_005274612.1
XM_017029617.1	927	Missense Mutation	GAG,GTG	E195V	XP_016885106.1
XM_017029618.1	927	Missense Mutation	GAG,GTG	E195V	XP_016885107.1

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