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CTCTACCACCAGGGCCTCCTGCAGG[A/G]ATGCCTCTTCCTGGAAGTCCACTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601604 | ||||||||||||||||||||
Literature Links: |
IL12RB1 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 |
IL12RB1 - interleukin 12 receptor subunit beta 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290023.1 | 2250 | Missense Mutation | TCC,TTC | S,F 612 | NP_001276952.1 | |
NM_001290024.1 | 2250 | Missense Mutation | TCC,TTC | S,F 652 | NP_001276953.1 | |
NM_005535.2 | 2250 | Missense Mutation | TCC,TTC | S,F 612 | NP_005526.1 | |
NM_153701.2 | 2250 | Intron | NP_714912.1 | |||
XM_006722741.3 | 2250 | Missense Mutation | TCC,TTC | S,F 652 | XP_006722804.2 | |
XM_011527966.2 | 2250 | Missense Mutation | TCC,TTC | S,F 663 | XP_011526268.1 | |
XM_011527967.2 | 2250 | Missense Mutation | TCC,TTC | S,F 659 | XP_011526269.1 | |
XM_011527968.2 | 2250 | Missense Mutation | TCC,TTC | S,F 656 | XP_011526270.1 | |
XM_011527969.2 | 2250 | Missense Mutation | TCC,TTC | S,F 652 | XP_011526271.1 | |
XM_011527970.2 | 2250 | Missense Mutation | TCC,TTC | S,F 663 | XP_011526272.1 | |
XM_011527971.2 | 2250 | Missense Mutation | TCC,TTC | S,F 663 | XP_011526273.1 | |
XM_011527972.2 | 2250 | Missense Mutation | TCC,TTC | S,F 663 | XP_011526274.1 | |
XM_011527973.2 | 2250 | Missense Mutation | TCC,TTC | S,F 623 | XP_011526275.1 | |
XM_011527974.2 | 2250 | Missense Mutation | TCC,TTC | S,F 619 | XP_011526276.1 | |
XM_011527975.2 | 2250 | Missense Mutation | TCC,TTC | S,F 652 | XP_011526277.1 | |
XM_011527976.2 | 2250 | Intron | XP_011526278.1 | |||
XM_011527977.2 | 2250 | Intron | XP_011526279.1 | |||
XM_017026762.1 | 2250 | Missense Mutation | TCC,TTC | S,F 418 | XP_016882251.1 |