Product Details
- SNP ID
-
rs201355073
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:37833184 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCCTCGTAGCAGTGTGGTGATGAC[A/G]GGAACGTGGTTGGTGCAGGCCGCTG
- Phenotype
-
MIM: 613383
MIM: 603692
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ANKRD54
PubMed Links
Gene Details
- Gene
- ANKRD54
- Gene Name
- ankyrin repeat domain 54
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_138797.2 |
1064 |
Silent Mutation |
CCC,CCT |
P190P |
NP_620152.1 |
XM_006724136.1 |
1064 |
Missense Mutation |
CCG,CTG |
P72L |
XP_006724199.1 |
XM_006724137.1 |
1064 |
Missense Mutation |
CCG,CTG |
P59L |
XP_006724200.1 |
XM_011529877.2 |
1064 |
Missense Mutation |
CCG,CTG |
P209L |
XP_011528179.1 |
XM_011529878.2 |
1064 |
Missense Mutation |
CCG,CTG |
P144L |
XP_011528180.1 |
XM_011529879.2 |
1064 |
Silent Mutation |
CCC,CCT |
P92P |
XP_011528181.1 |
XM_011529880.2 |
1064 |
Missense Mutation |
CCG,CTG |
P59L |
XP_011528182.1 |
XM_011529882.2 |
1064 |
Silent Mutation |
CCC,CCT |
P70P |
XP_011528184.1 |
XM_011529883.2 |
1064 |
Silent Mutation |
CCC,CCT |
P57P |
XP_011528185.1 |
XM_011529884.2 |
1064 |
Silent Mutation |
CCC,CCT |
P57P |
XP_011528186.1 |
XM_017028590.1 |
1064 |
Silent Mutation |
CCC,CCT |
P125P |
XP_016884079.1 |
XM_017028591.1 |
1064 |
Silent Mutation |
CCC,CCT |
P70P |
XP_016884080.1 |
XM_017028593.1 |
1064 |
Silent Mutation |
CCC,CCT |
P70P |
XP_016884082.1 |
- Gene
- GALR3
- Gene Name
- galanin receptor 3
There are no transcripts associated with this gene.
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