Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCTATGAGGCAGGGGCCCTGGAGA[A/G]GATGCAGGGGGAAACTGGGCCAAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
21 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607138 MIM: 604671 MIM: 604740 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CREB3L4 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
|
CREB3L4 - cAMP responsive element binding protein 3 like 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001255978.1 | 609 | Missense Mutation | AAG,AGG | K,R 124 | NP_001242907.1 | |
NM_001255979.1 | 609 | Missense Mutation | AAG,AGG | K,R 124 | NP_001242908.1 | |
NM_001255980.1 | 609 | Missense Mutation | AAG,AGG | K,R 104 | NP_001242909.1 | |
NM_001255981.1 | 609 | Missense Mutation | AAG,AGG | K,R 104 | NP_001242910.1 | |
NM_130898.3 | 609 | Missense Mutation | AAG,AGG | K,R 124 | NP_570968.1 | |
XM_006711172.2 | 609 | Missense Mutation | AAG,AGG | K,R 104 | XP_006711235.1 | |
XM_017000372.1 | 609 | Missense Mutation | AAG,AGG | K,R 104 | XP_016855861.1 |
JTB - jumping translocation breakpoint | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MIR6737 - microRNA 6737 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SLC39A1 - solute carrier family 39 member 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271957.1 | 609 | Intron | NP_001258886.1 | |||
NM_001271958.1 | 609 | Intron | NP_001258887.1 | |||
NM_001271959.1 | 609 | Intron | NP_001258888.1 | |||
NM_001271960.1 | 609 | Intron | NP_001258889.1 | |||
NM_001271961.1 | 609 | Intron | NP_001258890.1 | |||
NM_014437.4 | 609 | Intron | NP_055252.2 |