Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTGCTCCACATAACCATCCTCCAG[A/G]AGATCCTTTTGGTTCTGTTCCTTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 614577 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BMP2K 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
|
BMP2K - BMP2 inducible kinase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017593.3 | 2190 | Intron | NP_060063.2 | |||
NM_198892.1 | 2190 | Missense Mutation | GAA,GGA | E,G 675 | NP_942595.1 | |
XM_005263117.1 | 2190 | Intron | XP_005263174.1 | |||
XM_011532102.1 | 2190 | Missense Mutation | GAA,GGA | E,G 675 | XP_011530404.1 | |
XM_017008381.1 | 2190 | Missense Mutation | GAA,GGA | E,G 595 | XP_016863870.1 | |
XM_017008382.1 | 2190 | Missense Mutation | GAA,GGA | E,G 379 | XP_016863871.1 |
PAQR3 - progestin and adipoQ receptor family member 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040202.1 | 2190 | Intron | NP_001035292.1 | |||
XM_005262769.4 | 2190 | Intron | XP_005262826.1 | |||
XM_017007785.1 | 2190 | Intron | XP_016863274.1 |