Product Details

SNP ID
rs114061673
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:36750999 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTTCTCTTGTGTATGGCGCTGAA[C/T]ACATTTGTCAATAATACGTCAAAAA
Phenotype
MIM: 609018 MIM: 600892
Polymorphism
C/T, 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 6842 UTR 3 NP_000402.3
NM_001242784.1 6842 UTR 3 NP_001229713.1
NM_001242785.1 6842 UTR 3 NP_001229714.1
XM_005260953.3 6842 Intron XP_005261010.1
XM_005260955.3 6842 Intron XP_005261012.1
XM_005260956.3 6842 Intron XP_005261013.1
XM_006723994.2 6842 Intron XP_006724057.1
XM_006723995.1 6842 Intron XP_006724058.1
XM_011529538.1 6842 Intron XP_011527840.1
XM_011529539.2 6842 Intron XP_011527841.1
XM_011529540.2 6842 Intron XP_011527842.1
XM_011529541.2 6842 Intron XP_011527843.1
XM_017028330.1 6842 Intron XP_016883819.1
Gene
SIM2
Gene Name
single-minded family bHLH transcription factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005069.4 6842 Intron NP_005060.1
NM_009586.3 6842 Intron NP_033664.2
XM_011529694.1 6842 Intron XP_011527996.1
XM_017028442.1 6842 Intron XP_016883931.1

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