Product Details

SNP ID

rs201445071

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27217966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAGTGCTCACCTATCCTCTGATC[C/G]GCAACTATGGCATCCCCCCAGATGA

Phenotype

MIM: 114010 MIM: 604024

Polymorphism

C/G, Transversion 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	334	Intron			NP_001164266.1
NM_016085.4	334	Intron			NP_057169.2
NM_080592.3	334	Intron			NP_542159.3

Gene

CAD

Gene Name

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306079.1	334	Missense Mutation	CGC,GGC	R58G	NP_001293008.1
NM_004341.4	334	Missense Mutation	CGC,GGC	R58G	NP_004332.2
XM_005264555.3	334	Missense Mutation	CGC,GGC	R58G	XP_005264612.1
XM_006712101.2	334	Missense Mutation	CGC,GGC	R58G	XP_006712164.1

Gene

SLC5A6

Gene Name

solute carrier family 5 member 6

There are no transcripts associated with this gene.

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