Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGTTGATTTCTCTGTGTTCTTAGAT[C/G]CTTGTCGCATACGAGCCTCAGCTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605502 MIM: 603131 | ||||||||||||||||||||
Literature Links: |
DNAJC2 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 |
DNAJC2 - DnaJ heat shock protein family (Hsp40) member C2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001129887.1 | 1419 | Missense Mutation | GCA,GGA | A,G 383 | NP_001123359.1 | |
NM_014377.1 | 1419 | Missense Mutation | GCA,GGA | A,G 436 | NP_055192.1 | |
XM_005250269.2 | 1419 | Missense Mutation | GCA,GGA | A,G 290 | XP_005250326.1 | |
XM_011516028.2 | 1419 | Missense Mutation | GCA,GGA | A,G 362 | XP_011514330.1 | |
XM_011516029.2 | 1419 | Missense Mutation | GCA,GGA | A,G 290 | XP_011514331.1 | |
XM_011516030.2 | 1419 | Missense Mutation | GCA,GGA | A,G 233 | XP_011514332.1 | |
XM_017011968.1 | 1419 | Missense Mutation | GCA,GGA | A,G 233 | XP_016867457.1 |
PMPCB - peptidase, mitochondrial processing beta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004279.2 | 1419 | Intron | NP_004270.2 | |||
XM_005250717.3 | 1419 | Intron | XP_005250774.1 | |||
XM_006716181.3 | 1419 | Intron | XP_006716244.1 |