Product Details

SNP ID
rs184087864
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53234582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGGGGGCAGGACTGTACAGGGG[C/T]AGTGGGGATGTGGGCTGGTGCAGGG
Phenotype
MIM: 300522 MIM: 314690
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IQSEC2 PubMed Links

Gene Details

Gene
IQSEC2
Gene Name
IQ motif and Sec7 domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001111125.2 4301 Silent Mutation CTA,CTG L1368L NP_001104595.1
NM_001243197.1 4301 Intron NP_001230126.1
NM_015075.1 4301 UTR 3 NP_055890.1
XM_006724579.2 4301 Silent Mutation CTA,CTG L1400L XP_006724642.1
XM_006724580.3 4301 Silent Mutation CTA,CTG L1163L XP_006724643.1
XM_006724581.3 4301 Intron XP_006724644.1
XM_006724582.3 4301 Intron XP_006724645.1
XM_006724583.3 4301 Intron XP_006724646.1
XM_006724584.2 4301 UTR 3 XP_006724647.1
XM_011530773.2 4301 Silent Mutation CTA,CTG L1131L XP_011529075.1
XM_011530774.2 4301 Intron XP_011529076.1
XM_011530776.1 4301 Intron XP_011529078.1
XM_011530777.1 4301 Intron XP_011529079.1
XM_017029359.1 4301 Silent Mutation CTA,CTG L1358L XP_016884848.1
XM_017029360.1 4301 Silent Mutation CTA,CTG L1202L XP_016884849.1
Gene
KDM5C
Gene Name
lysine demethylase 5C
There are no transcripts associated with this gene.

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