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SNP ID: rs141122143
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:80202373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCATGCCCACCGCGTGAACTCTTA[A/C]ACCATGAAGGATACTGCCGCGCACG
Phenotype: MIM: 607211 MIM: 605270
Polymorphism: A/C, Transversion 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	2419	Silent Mutation	TAA,TAC	*724Y	NP_001244899.1
NM_024110.4	2419	Silent Mutation	TAA,TAC	*724Y	NP_077015.2
NM_052819.2	2419	Intron			NP_438170.1
XM_011525212.1	2419	Nonsense Mutation	TAA,TAC	*724Y	XP_011523514.1
XM_011525213.1	2419	Nonsense Mutation	TAA,TAC	*724Y	XP_011523515.1
XM_011525215.1	2419	Nonsense Mutation	TAA,TAC	*724Y	XP_011523517.1
XM_011525216.1	2419	Nonsense Mutation	TAA,TAC	*724Y	XP_011523518.1
XM_011525217.1	2419	Nonsense Mutation	TAA,TAC	*724Y	XP_011523519.1
XM_011525218.2	2419	Nonsense Mutation	TAA,TAC	*724Y	XP_011523520.1
XM_017025057.1	2419	Nonsense Mutation	TAA,TAC	*723Y	XP_016880546.1
XM_017025058.1	2419	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	2419	Intron			NP_000190.1
XM_005257582.3	2419	Intron			XP_005257639.1
XM_005257583.4	2419	Intron			XP_005257640.1
XM_011525126.1	2419	Intron			XP_011523428.1
XM_011525127.2	2419	Intron			XP_011523429.1
XM_017024951.1	2419	Intron			XP_016880440.1
XM_017024952.1	2419	Intron			XP_016880441.1

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