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GTACCTCGTCTGTCTTTGGTTAATA[C/T]CAAGTATGCATTTTTTCTGTAGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182790 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPTBN1 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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SPTBN1 - spectrin beta, non-erythrocytic 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003128.2 | 169 | Intron | NP_003119.2 | |||
NM_178313.2 | 169 | Intron | NP_842565.2 | |||
XM_005264517.2 | 169 | Intron | XP_005264574.1 | |||
XM_005264518.1 | 169 | Intron | XP_005264575.1 | |||
XM_006712087.2 | 169 | Intron | XP_006712150.1 | |||
XM_017004779.1 | 169 | Intron | XP_016860268.1 | |||
XM_017004780.1 | 169 | UTR 5 | XP_016860269.1 | |||
XM_017004781.1 | 169 | Intron | XP_016860270.1 |