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ATGGAGCAATCCCGGTCACAGCAGC[A/G]TGGGGGTGAACAAAGCTGGTGGGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600639 MIM: 118425 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CASP2 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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CASP2 - caspase 2 | ||||||
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There are no transcripts associated with this gene. |
CLCN1 - chloride voltage-gated channel 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000083.2 | 113 | Missense Mutation | CAT,CGT | H,R 9 | NP_000074.2 | |
XM_011515782.2 | 113 | Intron | XP_011514084.1 | |||
XM_017011739.1 | 113 | Intron | XP_016867228.1 | |||
XM_017011740.1 | 113 | Intron | XP_016867229.1 |