Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGCTGGTCTCGGAGCCCTTGGAGG[A/T]GGAGGTGAGCTCAGAAACCACACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 130160 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ELN 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
|
ELN - elastin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000501.3 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_000492.2 | |
NM_001081752.2 | 558 | Intron | NP_001075221.1 | |||
NM_001081753.2 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001075222.1 | |
NM_001081754.2 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001075223.1 | |
NM_001081755.2 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001075224.1 | |
NM_001278912.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001265841.1 | |
NM_001278913.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001265842.1 | |
NM_001278914.1 | 558 | Intron | NP_001265843.1 | |||
NM_001278915.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001265844.1 | |
NM_001278916.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001265845.1 | |
NM_001278917.1 | 558 | Intron | NP_001265846.1 | |||
NM_001278918.1 | 558 | Intron | NP_001265847.1 | |||
NM_001278939.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | NP_001265868.1 | |
XM_005250187.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_005250244.1 | |
XM_005250188.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_005250245.1 | |
XM_011515868.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514170.1 | |
XM_011515869.1 | 558 | Intron | XP_011514171.1 | |||
XM_011515870.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514172.1 | |
XM_011515871.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514173.1 | |
XM_011515872.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514174.1 | |
XM_011515873.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514175.1 | |
XM_011515874.1 | 558 | Intron | XP_011514176.1 | |||
XM_011515875.1 | 558 | Intron | XP_011514177.1 | |||
XM_011515876.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514178.1 | |
XM_011515877.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_011514179.1 | |
XM_017011813.1 | 558 | Intron | XP_016867302.1 | |||
XM_017011814.1 | 558 | Silent Mutation | GGA,GGT | G,G 53 | XP_016867303.1 |