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TCGGGGCTGGGAGCGGGAGCAGCCG[A/G]CTGCGTCCACCGCAGCGGCCTCGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600941 MIM: 606214 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BLVRB 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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BLVRB - biliverdin reductase B | ||||||
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There are no transcripts associated with this gene. |
SPTBN4 - spectrin beta, non-erythrocytic 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020971.2 | 280 | Missense Mutation | ACT,GCT | T,A 38 | NP_066022.2 | |
NM_025213.2 | 280 | Intron | NP_079489.2 | |||
XM_011527173.2 | 280 | Missense Mutation | ACT,GCT | T,A 38 | XP_011525475.1 | |
XM_017027049.1 | 280 | Missense Mutation | ACT,GCT | T,A 38 | XP_016882538.1 | |
XM_017027050.1 | 280 | UTR 5 | XP_016882539.1 | |||
XM_017027051.1 | 280 | Missense Mutation | ACT,GCT | T,A 38 | XP_016882540.1 | |
XM_017027052.1 | 280 | Missense Mutation | ACT,GCT | T,A 38 | XP_016882541.1 |