Product Details

SNP ID
rs139135576
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7583876 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCTTTGCAATATGGCGGCCGAGG[A/C]GGACGGACCGCTTAAACGGCTGCTC
Phenotype
MIM: 153634 MIM: 602641 MIM: 605339 MIM: 604041 MIM: 601297
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CD68 PubMed Links

Gene Details

Gene
CD68
Gene Name
CD68 molecule
There are no transcripts associated with this gene.

Gene
EIF4A1
Gene Name
eukaryotic translation initiation factor 4A1
There are no transcripts associated with this gene.

Gene
FXR2
Gene Name
FMR1 autosomal homolog 2
There are no transcripts associated with this gene.

Gene
LOC100996842
Gene Name
uncharacterized LOC100996842
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322800.1 25 Intron NP_001309729.1
XM_006721623.3 25 Intron XP_006721686.1
Gene
MPDU1
Gene Name
mannose-P-dolichol utilization defect 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004870.3 25 Missense Mutation GAG,GCG E5A NP_004861.2
XM_006721597.2 25 Missense Mutation GAG,GCG E5A XP_006721660.1
XM_006721598.2 25 Missense Mutation GAG,GCG E5A XP_006721661.1
XM_006721599.2 25 Missense Mutation GAG,GCG E5A XP_006721662.1
XM_011524081.2 25 UTR 5 XP_011522383.1
Gene
SENP3-EIF4A1
Gene Name
SENP3-EIF4A1 readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
SNORA48
Gene Name
small nucleolar RNA, H/ACA box 48
There are no transcripts associated with this gene.

Gene
SNORA67
Gene Name
small nucleolar RNA, H/ACA box 67
There are no transcripts associated with this gene.

Gene
SNORD10
Gene Name
small nucleolar RNA, C/D box 10
There are no transcripts associated with this gene.

Gene
SOX15
Gene Name
SRY-box 15
There are no transcripts associated with this gene.

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