Product Details
- SNP ID
-
rs148547053
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:68420391 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAACGACAACATCTCCAGCGCAGA[C/T]TACACTCAGGACCCTTCAGTAACTC
- Phenotype
-
MIM: 610008
MIM: 188830
MIM: 609224
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ARSG
PubMed Links
Gene Details
- Gene
- ARSG
- Gene Name
- arylsulfatase G
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001267727.1 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
NP_001254656.1 |
NM_014960.4 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
NP_055775.2 |
XM_005257170.3 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
XP_005257227.1 |
XM_005257172.3 |
2410 |
Intron |
|
|
XP_005257229.1 |
XM_006721777.3 |
2410 |
Silent Mutation |
GAC,GAT |
D529D |
XP_006721840.2 |
XM_006721779.3 |
2410 |
Intron |
|
|
XP_006721842.1 |
XM_011524535.2 |
2410 |
Silent Mutation |
GAC,GAT |
D529D |
XP_011522837.1 |
XM_011524536.2 |
2410 |
Silent Mutation |
GAC,GAT |
D529D |
XP_011522838.1 |
XM_011524537.1 |
2410 |
Silent Mutation |
GAC,GAT |
D529D |
XP_011522839.1 |
XM_011524538.2 |
2410 |
Silent Mutation |
GAC,GAT |
D529D |
XP_011522840.1 |
XM_011524540.2 |
2410 |
Silent Mutation |
GAC,GAT |
D528D |
XP_011522842.1 |
XM_011524541.2 |
2410 |
Intron |
|
|
XP_011522843.1 |
XM_011524542.2 |
2410 |
Intron |
|
|
XP_011522844.1 |
XM_011524543.2 |
2410 |
Intron |
|
|
XP_011522845.1 |
XM_011524544.2 |
2410 |
Intron |
|
|
XP_011522846.1 |
XM_011524545.2 |
2410 |
UTR 3 |
|
|
XP_011522847.1 |
XM_011524546.2 |
2410 |
Silent Mutation |
GAC,GAT |
D280D |
XP_011522848.1 |
XM_017024360.1 |
2410 |
Silent Mutation |
GAC,GAT |
D529D |
XP_016879849.1 |
XM_017024361.1 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
XP_016879850.1 |
XM_017024362.1 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
XP_016879851.1 |
XM_017024363.1 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
XP_016879852.1 |
XM_017024364.1 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
XP_016879853.1 |
XM_017024365.1 |
2410 |
Silent Mutation |
GAC,GAT |
D502D |
XP_016879854.1 |
XM_017024366.1 |
2410 |
Intron |
|
|
XP_016879855.1 |
XM_017024367.1 |
2410 |
Intron |
|
|
XP_016879856.1 |
XM_017024368.1 |
2410 |
UTR 3 |
|
|
XP_016879857.1 |
- Gene
- MIR635
- Gene Name
- microRNA 635
There are no transcripts associated with this gene.
- Gene
- PRKAR1A
- Gene Name
- protein kinase cAMP-dependent type I regulatory subunit alpha
- Gene
- WIPI1
- Gene Name
- WD repeat domain, phosphoinositide interacting 1
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