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AGGAAACAGGCTCGACAGCTGGAAA[A/T]TGAACTTGACCTGAAACTAGTTTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604026 | ||||||||||||||||||||
Literature Links: |
GOSR1 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 |
GOSR1 - golgi SNAP receptor complex member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007024.1 | 329 | UTR 5 | NP_001007025.1 | |||
NM_001007025.1 | 329 | Missense Mutation | AAT,ATT | N,I 21 | NP_001007026.1 | |
NM_004871.2 | 329 | Missense Mutation | AAT,ATT | N,I 21 | NP_004862.1 | |
XM_005258070.4 | 329 | Missense Mutation | AAT,ATT | N,I 71 | XP_005258127.1 | |
XM_005258071.4 | 329 | Missense Mutation | AAT,ATT | N,I 71 | XP_005258128.1 | |
XM_005258072.2 | 329 | UTR 5 | XP_005258129.1 | |||
XM_017025374.1 | 329 | Missense Mutation | AAT,ATT | N,I 71 | XP_016880863.1 | |
XM_017025375.1 | 329 | Missense Mutation | AAT,ATT | N,I 21 | XP_016880864.1 | |
XM_017025376.1 | 329 | Missense Mutation | AAT,ATT | N,I 21 | XP_016880865.1 | |
XM_017025377.1 | 329 | Missense Mutation | AAT,ATT | N,I 71 | XP_016880866.1 |