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AGGCAGGAGGAGGGAGACCTGGACC[A/G]GGCGCCCTGTCTATACAGCAGCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607211 MIM: 605270 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CARD14 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CARD14 - caspase recruitment domain family member 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257970.1 | 3132 | Intron | NP_001244899.1 | |||
NM_024110.4 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | NP_077015.2 | |
NM_052819.2 | 3132 | Intron | NP_438170.1 | |||
XM_011525212.1 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | XP_011523514.1 | |
XM_011525213.1 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | XP_011523515.1 | |
XM_011525215.1 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | XP_011523517.1 | |
XM_011525216.1 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | XP_011523518.1 | |
XM_011525217.1 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | XP_011523519.1 | |
XM_011525218.2 | 3132 | Missense Mutation | CAG,CGG | Q,R 962 | XP_011523520.1 | |
XM_017025057.1 | 3132 | Missense Mutation | CAG,CGG | Q,R 961 | XP_016880546.1 | |
XM_017025058.1 | 3132 | Intron | XP_016880547.1 |
LOC105371920 - uncharacterized LOC105371920 | ||||||
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There are no transcripts associated with this gene. |
SGSH - N-sulfoglucosamine sulfohydrolase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000199.3 | 3132 | Intron | NP_000190.1 | |||
XM_005257582.3 | 3132 | Intron | XP_005257639.1 | |||
XM_005257583.4 | 3132 | Intron | XP_005257640.1 | |||
XM_011525126.1 | 3132 | Intron | XP_011523428.1 | |||
XM_011525127.2 | 3132 | Intron | XP_011523429.1 | |||
XM_017024951.1 | 3132 | Intron | XP_016880440.1 | |||
XM_017024952.1 | 3132 | Intron | XP_016880441.1 |