Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCCCCAGAGGGCCGGCCTTACTCC[A/G]GGCCACAGTCTTCCTACACCTCGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616297 | ||||||||||||||||||||
Literature Links: |
MCTP2 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 |
MCTP2 - multiple C2 and transmembrane domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159643.1 | 273 | Missense Mutation | AGG,GGG | R,G 70 | NP_001153115.1 | |
NM_001159644.1 | 273 | Intron | NP_001153116.1 | |||
NM_018349.3 | 273 | Missense Mutation | AGG,GGG | R,G 70 | NP_060819.3 | |
XM_005254955.3 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_005255012.1 | |
XM_005254960.2 | 273 | Intron | XP_005255017.1 | |||
XM_006720603.2 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_006720666.1 | |
XM_011521770.1 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_011520072.1 | |
XM_011521771.2 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_011520073.1 | |
XM_011521772.2 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_011520074.1 | |
XM_011521773.2 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_011520075.1 | |
XM_011521774.2 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_011520076.1 | |
XM_011521775.2 | 273 | Intron | XP_011520077.1 | |||
XM_017022403.1 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_016877892.1 | |
XM_017022404.1 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_016877893.1 | |
XM_017022405.1 | 273 | Missense Mutation | AGG,GGG | R,G 70 | XP_016877894.1 |