Product Details

SNP ID

rs140014588

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:36754284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGGATGAGGTTTCTCAGCATGT[C/T]GAAGGAGTTGCCGTCCGGGTGCACA

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	2459	Missense Mutation	AAC,GAC	N715D	NP_000402.3
NM_001242784.1	2459	Missense Mutation	AAC,GAC	N715D	NP_001229713.1
NM_001242785.1	2459	Missense Mutation	AAC,GAC	N715D	NP_001229714.1
XM_005260953.3	2459	Missense Mutation	AAC,GAC	N862D	XP_005261010.1
XM_005260955.3	2459	Missense Mutation	AAC,GAC	N715D	XP_005261012.1
XM_005260956.3	2459	Missense Mutation	AAC,GAC	N715D	XP_005261013.1
XM_006723994.2	2459	Missense Mutation	AAC,GAC	N715D	XP_006724057.1
XM_006723995.1	2459	Missense Mutation	AAC,GAC	N715D	XP_006724058.1
XM_011529538.1	2459	Missense Mutation	AAC,GAC	N715D	XP_011527840.1
XM_011529539.2	2459	Missense Mutation	AAC,GAC	N715D	XP_011527841.1
XM_011529540.2	2459	Intron			XP_011527842.1
XM_011529541.2	2459	Missense Mutation	AAC,GAC	N715D	XP_011527843.1
XM_017028330.1	2459	Missense Mutation	AAC,GAC	N715D	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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