Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTTTTGGCATTCCCCCACCTGACT[C/T]TTTTTCAAGTGAGTTGTTCCGATCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609770 | ||||||||||||||||||||
Literature Links: |
JAML 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 |
JAML - junction adhesion molecule like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098526.1 | 1256 | Missense Mutation | AAG,GAG | K,E 382 | NP_001091996.1 | |
NM_001286570.1 | 1256 | Missense Mutation | AAG,GAG | K,E 343 | NP_001273499.1 | |
NM_001286571.1 | 1256 | Missense Mutation | AAG,GAG | K,E 343 | NP_001273500.1 | |
NM_153206.2 | 1256 | Missense Mutation | AAG,GAG | K,E 372 | NP_694938.2 | |
XM_005271407.3 | 1256 | Missense Mutation | AAG,GAG | K,E 372 | XP_005271464.1 | |
XM_017017213.1 | 1256 | Missense Mutation | AAG,GAG | K,E 404 | XP_016872702.1 | |
XM_017017214.1 | 1256 | Missense Mutation | AAG,GAG | K,E 249 | XP_016872703.1 | |
XM_017017215.1 | 1256 | Missense Mutation | AAG,GAG | K,E 249 | XP_016872704.1 |