Product Details
- SNP ID
-
rs200810494
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:74036580 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGCTGGTCTCGGAGCCCTTGGAGG[A/T]GGAGGTGAGCTCAGAAACCACACTT
- Phenotype
-
MIM: 130160
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ELN
PubMed Links
Gene Details
- Gene
- ELN
- Gene Name
- elastin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000501.3 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_000492.2 |
| NM_001081752.2 |
558 |
Intron |
|
|
NP_001075221.1 |
| NM_001081753.2 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_001075222.1 |
| NM_001081754.2 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_001075223.1 |
| NM_001081755.2 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_001075224.1 |
| NM_001278912.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_001265841.1 |
| NM_001278913.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_001265842.1 |
| NM_001278914.1 |
558 |
Intron |
|
|
NP_001265843.1 |
| NM_001278915.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
NP_001265844.1 |
| NM_001278916.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
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 |
G53G |
NP_001265868.1 |
| XM_005250187.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_005250244.1 |
| XM_005250188.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_005250245.1 |
| XM_011515868.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_011514170.1 |
| XM_011515869.1 |
558 |
Intron |
|
|
XP_011514171.1 |
| XM_011515870.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_011514172.1 |
| XM_011515871.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_011514173.1 |
| XM_011515872.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_011514174.1 |
| XM_011515873.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
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 |
G53G |
XP_011514178.1 |
| XM_011515877.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_011514179.1 |
| XM_017011813.1 |
558 |
Intron |
|
|
XP_016867302.1 |
| XM_017011814.1 |
558 |
Silent Mutation |
GGA,GGT |
G53G |
XP_016867303.1 |
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