Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTCCAGCCTCCACTGCTTCTGCCC[C/G]CCGCTGCTGAAATCAAACATACCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 603924 MIM: 602873 | ||||||||||||||||||||
Literature Links: |
HABP2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
HABP2 - hyaluronan binding protein 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177660.2 | 2534 | UTR 3 | NP_001171131.1 | |||
NM_004132.4 | 2534 | UTR 3 | NP_004123.1 |
NRAP - nebulin related anchoring protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261463.1 | 2534 | Missense Mutation | CGG,GGG | R,G 1699 | NP_001248392.1 | |
NM_001322945.1 | 2534 | Missense Mutation | CGG,GGG | R,G 1662 | NP_001309874.1 | |
NM_006175.4 | 2534 | Missense Mutation | CGG,GGG | R,G 1663 | NP_006166.3 | |
NM_198060.3 | 2534 | Missense Mutation | CGG,GGG | R,G 1698 | NP_932326.2 | |
XM_005269864.2 | 2534 | Missense Mutation | CGG,GGG | R,G 1664 | XP_005269921.1 | |
XM_005269865.2 | 2534 | Missense Mutation | CGG,GGG | R,G 1663 | XP_005269922.1 | |
XM_005269867.2 | 2534 | Missense Mutation | CGG,GGG | R,G 1595 | XP_005269924.1 | |
XM_006717870.2 | 2534 | Missense Mutation | CGG,GGG | R,G 1664 | XP_006717933.1 | |
XM_011539832.2 | 2534 | Missense Mutation | CGG,GGG | R,G 1663 | XP_011538134.1 |