Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGGCTCTATCTTGGATTTATGGCA[A/G]TGCTTCCTCTGGTTTTACATTGGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611176 MIM: 614811 | ||||||||||||||||||||
Literature Links: |
JKAMP 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 |
JKAMP - JNK1/MAPK8-associated membrane protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098625.2 | 252 | Missense Mutation | ATG,GTG | M,V 60 | NP_001092095.1 | |
NM_001284201.1 | 252 | Missense Mutation | ATG,GTG | M,V 80 | NP_001271130.1 | |
NM_001284202.1 | 252 | Missense Mutation | ATG,GTG | M,V 74 | NP_001271131.1 | |
NM_001284203.1 | 252 | Missense Mutation | ATG,GTG | M,V 3 | NP_001271132.1 | |
NM_001284204.1 | 252 | Missense Mutation | ATG,GTG | M,V 66 | NP_001271133.1 | |
NM_016475.4 | 252 | Missense Mutation | ATG,GTG | M,V 66 | NP_057559.2 | |
XM_006720171.3 | 252 | Missense Mutation | ATG,GTG | M,V 80 | XP_006720234.1 | |
XM_017021366.1 | 252 | Missense Mutation | ATG,GTG | M,V 60 | XP_016876855.1 |
L3HYPDH - trans-L-3-hydroxyproline dehydratase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144581.1 | 252 | Intron | NP_653182.1 |