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GGGCCAAAGGGGAGCTGCAGGTGCA[C/T]TGCAACGAGGTCCTGCACGTCACCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 607211 MIM: 605270 | ||||||||||||||||||||
Literature Links: |
CARD14 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CARD14 - caspase recruitment domain family member 14 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257970.1 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | NP_001244899.1 | |
NM_024110.4 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | NP_077015.2 | |
NM_052819.2 | 2341 | Intron | NP_438170.1 | |||
XM_011525212.1 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | XP_011523514.1 | |
XM_011525213.1 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | XP_011523515.1 | |
XM_011525215.1 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | XP_011523517.1 | |
XM_011525216.1 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | XP_011523518.1 | |
XM_011525217.1 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | XP_011523519.1 | |
XM_011525218.2 | 2341 | Silent Mutation | CAC,CAT | H,H 698 | XP_011523520.1 | |
XM_017025057.1 | 2341 | Silent Mutation | CAC,CAT | H,H 697 | XP_016880546.1 | |
XM_017025058.1 | 2341 | Intron | XP_016880547.1 |
LOC105371920 - uncharacterized LOC105371920 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SGSH - N-sulfoglucosamine sulfohydrolase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000199.3 | 2341 | Intron | NP_000190.1 | |||
XM_005257582.3 | 2341 | Intron | XP_005257639.1 | |||
XM_005257583.4 | 2341 | Intron | XP_005257640.1 | |||
XM_011525126.1 | 2341 | Intron | XP_011523428.1 | |||
XM_011525127.2 | 2341 | Intron | XP_011523429.1 | |||
XM_017024951.1 | 2341 | Intron | XP_016880440.1 | |||
XM_017024952.1 | 2341 | Intron | XP_016880441.1 |