Product Details

SNP ID
rs200680497
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27217922 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTACCCCGAGGCCCTCACTGATC[C/T]CTCCTACAAGGCACAGATCTTAGTG
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_001170795.1 290 Intron NP_001164266.1
NM_016085.4 290 Intron NP_057169.2
NM_080592.3 290 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_001306079.1 290 Missense Mutation CCC,CTC P43L NP_001293008.1
NM_004341.4 290 Missense Mutation CCC,CTC P43L NP_004332.2
XM_005264555.3 290 Missense Mutation CCC,CTC P43L XP_005264612.1
XM_006712101.2 290 Missense Mutation CCC,CTC P43L 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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