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TTTGCTCATTACATTCCTCATTTTC[A/C]ATCTTGGTGGTATGAGTCTTGTCAG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606060 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAJC12 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)
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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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DNAJC12 - DnaJ heat shock protein family (Hsp40) member C12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021800.2 | 312 | Missense Mutation | ATG,ATT | M,I 124 | NP_068572.1 | |
NM_201262.1 | 312 | Intron | NP_957714.1 | |||
XM_017016431.1 | 312 | Missense Mutation | ATG,ATT | M,I 42 | XP_016871920.1 | |
XM_017016432.1 | 312 | Missense Mutation | ATG,ATT | M,I 42 | XP_016871921.1 |
Set Membership: |
HapMap |