Product Details

SNP ID
rs147913873
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:36752776 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATTTTTTCATAGGGCTGTCCTGT[G/T]CCTGGCTAAAGGTAGACAGACTATA
Phenotype
MIM: 609018 MIM: 600892
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HLCS PubMed Links

Gene Details

Gene
HLCS
Gene Name
holocarboxylase synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000411.6 3967 UTR 3 NP_000402.3
NM_001242784.1 3967 UTR 3 NP_001229713.1
NM_001242785.1 3967 UTR 3 NP_001229714.1
XM_005260953.3 3967 UTR 3 XP_005261010.1
XM_005260955.3 3967 UTR 3 XP_005261012.1
XM_005260956.3 3967 UTR 3 XP_005261013.1
XM_006723994.2 3967 UTR 3 XP_006724057.1
XM_006723995.1 3967 UTR 3 XP_006724058.1
XM_011529538.1 3967 UTR 3 XP_011527840.1
XM_011529539.2 3967 UTR 3 XP_011527841.1
XM_011529540.2 3967 Intron XP_011527842.1
XM_011529541.2 3967 UTR 3 XP_011527843.1
XM_017028330.1 3967 UTR 3 XP_016883819.1
Gene
SIM2
Gene Name
single-minded family bHLH transcription factor 2
There are no transcripts associated with this gene.

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