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ACCTATAGAGTCCTTATTAGCCAGA[C/T]GCAACATGTCTTCTCTTCTGGCCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600003 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CACNB2 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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CACNB2 - calcium voltage-gated channel auxiliary subunit beta 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000724.3 | 5017 | Intron | NP_000715.2 | |||
NM_001167945.1 | 5017 | Intron | NP_001161417.1 | |||
NM_201570.2 | 5017 | Intron | NP_963864.1 | |||
NM_201571.3 | 5017 | Intron | NP_963865.2 | |||
NM_201572.3 | 5017 | Intron | NP_963866.2 | |||
NM_201590.2 | 5017 | Intron | NP_963884.2 | |||
NM_201593.2 | 5017 | Intron | NP_963887.2 | |||
NM_201596.2 | 5017 | Intron | NP_963890.2 | |||
NM_201597.2 | 5017 | Intron | NP_963891.1 | |||
XM_005252588.3 | 5017 | Intron | XP_005252645.1 | |||
XM_005252591.3 | 5017 | Intron | XP_005252648.1 | |||
XM_006717502.3 | 5017 | Intron | XP_006717565.1 | |||
XM_011519659.2 | 5017 | Intron | XP_011517961.1 | |||
XM_011519660.2 | 5017 | Intron | XP_011517962.1 | |||
XM_017016625.1 | 5017 | Intron | XP_016872114.1 |
NSUN6 - NOP2/Sun RNA methyltransferase family member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_182543.3 | 5017 | Missense Mutation | CAT,CGT | H,R 449 | NP_872349.1 | |
XM_011519383.1 | 5017 | Missense Mutation | CAT,CGT | H,R 452 | XP_011517685.1 | |
XM_011519384.1 | 5017 | Missense Mutation | CAT,CGT | H,R 441 | XP_011517686.1 | |
XM_011519385.1 | 5017 | Missense Mutation | CAT,CGT | H,R 441 | XP_011517687.1 | |
XM_011519386.2 | 5017 | Missense Mutation | CAT,CGT | H,R 441 | XP_011517688.1 | |
XM_011519387.2 | 5017 | Missense Mutation | CAT,CGT | H,R 401 | XP_011517689.1 | |
XM_011519389.2 | 5017 | Missense Mutation | CAT,CGT | H,R 312 | XP_011517691.1 | |
XM_017015906.1 | 5017 | Missense Mutation | CAT,CGT | H,R 448 | XP_016871395.1 | |
XM_017015907.1 | 5017 | Missense Mutation | CAT,CGT | H,R 441 | XP_016871396.1 | |
XM_017015908.1 | 5017 | Missense Mutation | CAT,CGT | H,R 437 | XP_016871397.1 | |
XM_017015909.1 | 5017 | Missense Mutation | CAT,CGT | H,R 397 | XP_016871398.1 | |
XM_017015910.1 | 5017 | Missense Mutation | CAT,CGT | H,R 354 | XP_016871399.1 | |
XM_017015911.1 | 5017 | Missense Mutation | CAT,CGT | H,R 350 | XP_016871400.1 | |
XM_017015912.1 | 5017 | Missense Mutation | CAT,CGT | H,R 312 | XP_016871401.1 | |
XM_017015913.1 | 5017 | Missense Mutation | CAT,CGT | H,R 308 | XP_016871402.1 | |
XM_017015914.1 | 5017 | Missense Mutation | CAT,CGT | H,R 308 | XP_016871403.1 |