Product Details

SNP ID

rs79373682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:36754331 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGTCACAACCTCGCCGCCCTCC[C/T]GGTGAACCTGGAGGAAGCCAGAATC

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	2412	Missense Mutation	CAG,CGG	Q699R	NP_000402.3
NM_001242784.1	2412	Missense Mutation	CAG,CGG	Q699R	NP_001229713.1
NM_001242785.1	2412	Missense Mutation	CAG,CGG	Q699R	NP_001229714.1
XM_005260953.3	2412	Missense Mutation	CAG,CGG	Q846R	XP_005261010.1
XM_005260955.3	2412	Missense Mutation	CAG,CGG	Q699R	XP_005261012.1
XM_005260956.3	2412	Missense Mutation	CAG,CGG	Q699R	XP_005261013.1
XM_006723994.2	2412	Missense Mutation	CAG,CGG	Q699R	XP_006724057.1
XM_006723995.1	2412	Missense Mutation	CAG,CGG	Q699R	XP_006724058.1
XM_011529538.1	2412	Missense Mutation	CAG,CGG	Q699R	XP_011527840.1
XM_011529539.2	2412	Missense Mutation	CAG,CGG	Q699R	XP_011527841.1
XM_011529540.2	2412	Intron			XP_011527842.1
XM_011529541.2	2412	Missense Mutation	CAG,CGG	Q699R	XP_011527843.1
XM_017028330.1	2412	Missense Mutation	CAG,CGG	Q699R	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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