Product Details

SNP ID
rs199499263
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:36754254 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGGGGACGCCCGGCATTACCGCC[A/G]TTTGGGGAGGATGAGGTTTCTCAGC
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 2489 Missense Mutation CGG,TGG R725W NP_000402.3
NM_001242784.1 2489 Missense Mutation CGG,TGG R725W NP_001229713.1
NM_001242785.1 2489 Missense Mutation CGG,TGG R725W NP_001229714.1
XM_005260953.3 2489 Missense Mutation CGG,TGG R872W XP_005261010.1
XM_005260955.3 2489 Missense Mutation CGG,TGG R725W XP_005261012.1
XM_005260956.3 2489 Missense Mutation CGG,TGG R725W XP_005261013.1
XM_006723994.2 2489 Missense Mutation CGG,TGG R725W XP_006724057.1
XM_006723995.1 2489 Missense Mutation CGG,TGG R725W XP_006724058.1
XM_011529538.1 2489 Missense Mutation CGG,TGG R725W XP_011527840.1
XM_011529539.2 2489 Missense Mutation CGG,TGG R725W XP_011527841.1
XM_011529540.2 2489 Intron XP_011527842.1
XM_011529541.2 2489 Missense Mutation CGG,TGG R725W XP_011527843.1
XM_017028330.1 2489 Missense Mutation CGG,TGG R725W 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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