Product Details

SNP ID
rs143305674
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:185397252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTTAGCCGCAGGAAGCGGCCTT[A/G]CTTGCTTTCTTCTCTGGCAGCTGCA
Phenotype
MIM: 611482
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ANKRD37 PubMed Links

Gene Details

Gene
ANKRD37
Gene Name
ankyrin repeat domain 37
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181726.3 213 Missense Mutation ACT,GCT T44A NP_859077.1
XM_017008176.1 213 Missense Mutation ACT,GCT T44A XP_016863665.1
Gene
C4orf47
Gene Name
chromosome 4 open reading frame 47
There are no transcripts associated with this gene.

Gene
LRP2BP
Gene Name
LRP2 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018409.3 213 Intron NP_060879.2
XM_005263125.4 213 Intron XP_005263182.1
XM_006714260.3 213 Intron XP_006714323.1
XM_006714265.3 213 Intron XP_006714328.1
XM_011532110.2 213 Intron XP_011530412.1
XM_011532111.2 213 Intron XP_011530413.1
XM_017008410.1 213 Intron XP_016863899.1
XM_017008411.1 213 Intron XP_016863900.1
Gene
UFSP2
Gene Name
UFM1 specific peptidase 2
There are no transcripts associated with this gene.

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