Product Details

SNP ID

rs147821107

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27215520 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGGTGACTTGGCCAACACCTTC[C/T]GTGGCTTTACTCAGCTCCAGACTCT

Phenotype

MIM: 114010 MIM: 604024

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATRAID PubMed Links

Gene Details

Gene

ATRAID

Gene Name

all-trans retinoic acid induced differentiation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170795.1	678	Missense Mutation	CGT,TGT	R114C	NP_001164266.1
NM_016085.4	678	Missense Mutation	CGT,TGT	R56C	NP_057169.2
NM_080592.3	678	Missense Mutation	CGT,TGT	R169C	NP_542159.3

Gene

CAD

Gene Name

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

There are no transcripts associated with this gene.

Gene

SLC5A6

Gene Name

solute carrier family 5 member 6

There are no transcripts associated with this gene.

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