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AGATGATTGGTCTTCTGAATCCAGC[A/G]ACTCTGAAGGCTCCTGGGAGGCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610388 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DEFB124 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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DEFB124 - defensin beta 124 | ||||||
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There are no transcripts associated with this gene. |
LINC00028 - long intergenic non-protein coding RNA 28 | ||||||
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There are no transcripts associated with this gene. |
REM1 - RRAD and GEM like GTPase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014012.5 | 512 | Missense Mutation | AAC,GAC | N,D 72 | NP_054731.2 | |
XM_005260404.1 | 512 | Missense Mutation | AAC,GAC | N,D 72 | XP_005260461.1 | |
XM_011528795.1 | 512 | Missense Mutation | AAC,GAC | N,D 72 | XP_011527097.1 | |
XM_017027833.1 | 512 | Missense Mutation | AAC,GAC | N,D 72 | XP_016883322.1 |