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AGTCCACTAGGATCAGCTCCTGTAG[C/T]TCCCGATCTCCTAGACCTATTAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123290 MIM: 606440 | ||||||||||||||||||||
Literature Links: |
CKMT1B PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CKMT1B - creatine kinase, mitochondrial 1B | ||||||
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There are no transcripts associated with this gene. |
STRC - stereocilin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153700.2 | 2761 | Silent Mutation | GAA,GAG | E,E 1542 | NP_714544.1 | |
XM_011521278.2 | 2761 | Intron | XP_011519580.1 | |||
XM_017021954.1 | 2761 | Intron | XP_016877443.1 | |||
XM_017021955.1 | 2761 | Intron | XP_016877444.1 | |||
XM_017021956.1 | 2761 | Intron | XP_016877445.1 | |||
XM_017021957.1 | 2761 | Intron | XP_016877446.1 | |||
XM_017021958.1 | 2761 | Intron | XP_016877447.1 | |||
XM_017021959.1 | 2761 | Intron | XP_016877448.1 | |||
XM_017021960.1 | 2761 | Intron | XP_016877449.1 | |||
XM_017021961.1 | 2761 | Intron | XP_016877450.1 | |||
XM_017021962.1 | 2761 | Silent Mutation | GAA,GAG | E,E 917 | XP_016877451.1 |