Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
40 submissions
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Phenotype: |
MIM: 601142 MIM: 607215 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNAB2 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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KCNAB2 - potassium voltage-gated channel subfamily A regulatory beta subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199860.1 | 224 | Intron | NP_001186789.1 | |||
NM_001199861.1 | 224 | UTR 5 | NP_001186790.1 | |||
NM_001199862.1 | 224 | Intron | NP_001186791.1 | |||
NM_001199863.1 | 224 | Intron | NP_001186792.1 | |||
NM_003636.3 | 224 | Intron | NP_003627.1 | |||
NM_172130.2 | 224 | Intron | NP_742128.1 | |||
XM_005263514.2 | 224 | Intron | XP_005263571.1 | |||
XM_011542321.2 | 224 | Intron | XP_011540623.1 | |||
XM_011542322.2 | 224 | Intron | XP_011540624.1 | |||
XM_017002618.1 | 224 | Intron | XP_016858107.1 | |||
XM_017002619.1 | 224 | Intron | XP_016858108.1 | |||
XM_017002620.1 | 224 | Intron | XP_016858109.1 | |||
XM_017002621.1 | 224 | Intron | XP_016858110.1 |
NPHP4 - nephronophthisis 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291593.1 | 224 | Intron | NP_001278522.1 | |||
NM_001291594.1 | 224 | Intron | NP_001278523.1 | |||
NM_015102.4 | 224 | Intron | NP_055917.1 | |||
XM_006710563.3 | 224 | Intron | XP_006710626.1 | |||
XM_011541213.1 | 224 | Intron | XP_011539515.1 | |||
XM_011541214.1 | 224 | Intron | XP_011539516.1 | |||
XM_011541215.1 | 224 | Intron | XP_011539517.1 | |||
XM_011541216.2 | 224 | Intron | XP_011539518.1 | |||
XM_011541217.2 | 224 | Intron | XP_011539519.1 | |||
XM_011541218.2 | 224 | Intron | XP_011539520.1 | |||
XM_017000996.1 | 224 | Intron | XP_016856485.1 | |||
XM_017000997.1 | 224 | Intron | XP_016856486.1 | |||
XM_017000998.1 | 224 | Intron | XP_016856487.1 | |||
XM_017000999.1 | 224 | Intron | XP_016856488.1 | |||
XM_017001000.1 | 224 | Intron | XP_016856489.1 | |||
XM_017001001.1 | 224 | Intron | XP_016856490.1 | |||
XM_017001002.1 | 224 | Intron | XP_016856491.1 | |||
XM_017001003.1 | 224 | Intron | XP_016856492.1 |