Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGCCGCGATCATACTTGCGACGGA[C/G]GGTGGCACTGCCCAGCACCACGTAG
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 |
---|---|---|
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 |
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 | 344 | Missense Mutation | CTC,GTC | L,V 106 | 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 | 344 | Intron | NP_001189489.1 | |||
NM_017528.4 | 344 | Intron | NP_059998.2 | |||
XM_006715847.1 | 344 | Intron | XP_006715910.1 | |||
XM_011515778.1 | 344 | Intron | XP_011514080.1 | |||
XM_011515779.1 | 344 | Intron | XP_011514081.1 |