Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGCAGGGGTCCTCGGCACTGAAGG[C/G]TGATGTCCTTCCCTAACTTGAACAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 300137 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IGSF1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
IGSF1 - immunoglobulin superfamily member 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170961.1 | 3588 | Missense Mutation | ACC,AGC | T,S 1185 | NP_001164432.1 | |
NM_001170962.1 | 3588 | Missense Mutation | ACC,AGC | T,S 1171 | NP_001164433.1 | |
NM_001170963.1 | 3588 | Intron | NP_001164434.1 | |||
NM_001555.4 | 3588 | Missense Mutation | ACC,AGC | T,S 1180 | NP_001546.2 | |
NM_205833.3 | 3588 | Intron | NP_991402.1 | |||
XM_011531330.1 | 3588 | Missense Mutation | ACC,AGC | T,S 1185 | XP_011529632.1 | |
XM_011531333.1 | 3588 | Missense Mutation | ACC,AGC | T,S 1102 | XP_011529635.1 | |
XM_011531334.1 | 3588 | Missense Mutation | ACC,AGC | T,S 993 | XP_011529636.1 |