Product Details

SNP ID
rs139702878
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80202267 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCGGGTCAACCTGGCCATGGAGG[A/G]CAGGGCCAAAGGGGAGCTGCAGGTG
Phenotype
MIM: 607211 MIM: 605270
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CARD14 PubMed Links

Gene Details

Gene
CARD14
Gene Name
caspase recruitment domain family member 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257970.1 2313 Missense Mutation GAC,GGC D689G NP_001244899.1
NM_024110.4 2313 Missense Mutation GAC,GGC D689G NP_077015.2
NM_052819.2 2313 Intron NP_438170.1
XM_011525212.1 2313 Missense Mutation GAC,GGC D689G XP_011523514.1
XM_011525213.1 2313 Missense Mutation GAC,GGC D689G XP_011523515.1
XM_011525215.1 2313 Missense Mutation GAC,GGC D689G XP_011523517.1
XM_011525216.1 2313 Missense Mutation GAC,GGC D689G XP_011523518.1
XM_011525217.1 2313 Missense Mutation GAC,GGC D689G XP_011523519.1
XM_011525218.2 2313 Missense Mutation GAC,GGC D689G XP_011523520.1
XM_017025057.1 2313 Missense Mutation GAC,GGC D688G XP_016880546.1
XM_017025058.1 2313 Intron XP_016880547.1
Gene
LOC105371920
Gene Name
uncharacterized LOC105371920
There are no transcripts associated with this gene.

Gene
SGSH
Gene Name
N-sulfoglucosamine sulfohydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000199.3 2313 Intron NP_000190.1
XM_005257582.3 2313 Intron XP_005257639.1
XM_005257583.4 2313 Intron XP_005257640.1
XM_011525126.1 2313 Intron XP_011523428.1
XM_011525127.2 2313 Intron XP_011523429.1
XM_017024951.1 2313 Intron XP_016880440.1
XM_017024952.1 2313 Intron XP_016880441.1

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