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CGTAGTGGGCCTGGTAGAAGGCGTC[A/G]AAGTTGAACATCGTGCGGTTGGCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615733 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAJC30 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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DNAJC30 - DnaJ heat shock protein family (Hsp40) member C30 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032317.2 | 520 | Silent Mutation | TTC,TTT | F,F 164 | NP_115693.2 |
WBSCR22 - Williams-Beuren syndrome chromosome region 22 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001202560.2 | 520 | Intron | NP_001189489.1 | |||
NM_017528.4 | 520 | Intron | NP_059998.2 | |||
XM_006715847.1 | 520 | Intron | XP_006715910.1 | |||
XM_011515778.1 | 520 | Intron | XP_011514080.1 | |||
XM_011515779.1 | 520 | Intron | XP_011514081.1 |