Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTACAGGCAGGATGCGCACATAGC[A/G]AGCCAGGATGGGCGTCTCAAACAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 602281 | ||||||||||||||||||||
Literature Links: |
HAPLN3 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 |
HAPLN3 - hyaluronan and proteoglycan link protein 3 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MFGE8 - milk fat globule-EGF factor 8 protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114614.2 | 1243 | Missense Mutation | CGC,TGC | R,C 313 | NP_001108086.1 | |
NM_001310319.1 | 1243 | Missense Mutation | CGC,TGC | R,C 321 | NP_001297248.1 | |
NM_001310320.1 | 1243 | Missense Mutation | CGC,TGC | R,C 357 | NP_001297249.1 | |
NM_001310321.1 | 1243 | Missense Mutation | CGC,TGC | R,C 253 | NP_001297250.1 | |
NM_005928.3 | 1243 | Missense Mutation | CGC,TGC | R,C 365 | NP_005919.2 | |
XM_017022206.1 | 1243 | Intron | XP_016877695.1 |