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AACCGTTCATTTTTGGCATAGAACT[A/T]CTTTTGCAGTCTGCCTAAATCTTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610526 MIM: 616796 | ||||||||||||||||||||
Literature Links: |
NT5C1B PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
NT5C1B - 5'-nucleotidase, cytosolic IB | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002006.2 | 1616 | Nonsense Mutation | AAG,TAG | K,* 519 | NP_001002006.1 | |
NM_001199086.1 | 1616 | Nonsense Mutation | AAG,TAG | K,* 502 | NP_001186015.1 | |
NM_001199087.1 | 1616 | Nonsense Mutation | AAG,TAG | K,* 536 | NP_001186016.1 | |
NM_001199088.1 | 1616 | Nonsense Mutation | AAG,TAG | K,* 521 | NP_001186017.1 | |
NM_033253.3 | 1616 | Nonsense Mutation | AAG,TAG | K,* 459 | NP_150278.2 |
NT5C1B-RDH14 - NT5C1B-RDH14 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199103.1 | 1616 | Intron | NP_001186032.1 | |||
NM_001199104.1 | 1616 | Nonsense Mutation | AAG,TAG | K,* 519 | NP_001186033.1 |
RDH14 - retinol dehydrogenase 14 (all-trans/9-cis/11-cis) | ||||||
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There are no transcripts associated with this gene. |