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CCAGTTCACGTAGGCAGGGACACGA[A/G]TGTAGACTCCCGGCCTGTTGGGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607904 MIM: 191081 MIM: 609341 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CACNA1H 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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CACNA1H - calcium voltage-gated channel subunit alpha1 H | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005407.1 | 1508 | Intron | NP_001005407.1 | |||
NM_021098.2 | 1508 | Intron | NP_066921.2 | |||
XM_005255652.4 | 1508 | Intron | XP_005255709.1 | |||
XM_006720963.3 | 1508 | Intron | XP_006721026.1 | |||
XM_006720964.3 | 1508 | Intron | XP_006721027.1 | |||
XM_006720965.3 | 1508 | Intron | XP_006721028.1 | |||
XM_006720967.3 | 1508 | Intron | XP_006721030.1 | |||
XM_006720968.3 | 1508 | Intron | XP_006721031.1 | |||
XM_011522724.2 | 1508 | Intron | XP_011521026.1 | |||
XM_011522727.2 | 1508 | Intron | XP_011521029.1 | |||
XM_017023819.1 | 1508 | Intron | XP_016879308.1 | |||
XM_017023820.1 | 1508 | Intron | XP_016879309.1 | |||
XM_017023821.1 | 1508 | Intron | XP_016879310.1 |
TPSB2 - tryptase beta 2 (gene/pseudogene) | ||||||
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There are no transcripts associated with this gene. |
TPSG1 - tryptase gamma 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012467.3 | 1508 | Missense Mutation | ACT,ATT | T,I 256 | NP_036599.3 | |
XM_011522446.2 | 1508 | Missense Mutation | ACT,ATT | T,I 281 | XP_011520748.1 | |
XM_011522447.2 | 1508 | Missense Mutation | ACT,ATT | T,I 281 | XP_011520749.1 |