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SNP ID: rs114924943
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:24180740 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATGAGGCTGCAGATACGCAGAAGCT[C/G]GGGAGCCACATCTATAACCTGTGAG
Phenotype: MIM: 608193
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: IPO4 PubMed Links

Gene Details

Gene: IPO4
Gene Name: importin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024658.3	3195	Missense Mutation	CAG,GAG	Q1022E	NP_078934.3

Gene: REC8
Gene Name: REC8 meiotic recombination protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048205.1	3195	Intron			NP_001041670.1
NM_005132.2	3195	Intron			NP_005123.2
XM_011537421.1	3195	Intron			XP_011535723.1
XM_017021841.1	3195	Intron			XP_016877330.1

Gene: TM9SF1
Gene Name: transmembrane 9 superfamily member 1

There are no transcripts associated with this gene.

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