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TCACCGTTCCACGGCCAGCGCCTCT[A/G]CCTGCTCGTCCGGGAAGGCGATGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605490 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HSD11B1L 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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HSD11B1L - hydroxysteroid 11-beta dehydrogenase 1 like | ||||||
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There are no transcripts associated with this gene. |
LONP1 - lon peptidase 1, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001276479.1 | 2696 | Missense Mutation | GCA,GTA | A,V 888 | NP_001263408.1 | |
NM_001276480.1 | 2696 | Missense Mutation | GCA,GTA | A,V 756 | NP_001263409.1 | |
NM_004793.3 | 2696 | Missense Mutation | GCA,GTA | A,V 952 | NP_004784.2 | |
XM_011528441.2 | 2696 | Intron | XP_011526743.1 |
RPL36 - ribosomal protein L36 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015414.3 | 2696 | Intron | NP_056229.2 | |||
NM_033643.2 | 2696 | Intron | NP_378669.1 |