Product Details

SNP ID
rs79868396
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:36751691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTAGCAGAGTTCCCAGTGCCAGAG[A/G]GCACTGCTGGGGTGGGGGTGGGGAC
Phenotype
MIM: 609018 MIM: 600892
Polymorphism
A/G, Transition 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 5052 UTR 3 NP_000402.3
NM_001242784.1 5052 UTR 3 NP_001229713.1
NM_001242785.1 5052 UTR 3 NP_001229714.1
XM_005260953.3 5052 UTR 3 XP_005261010.1
XM_005260955.3 5052 UTR 3 XP_005261012.1
XM_005260956.3 5052 UTR 3 XP_005261013.1
XM_006723994.2 5052 UTR 3 XP_006724057.1
XM_006723995.1 5052 Intron XP_006724058.1
XM_011529538.1 5052 Intron XP_011527840.1
XM_011529539.2 5052 Intron XP_011527841.1
XM_011529540.2 5052 Intron XP_011527842.1
XM_011529541.2 5052 UTR 3 XP_011527843.1
XM_017028330.1 5052 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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