Product Details
- SNP ID
-
rs111291628
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.18:13826318 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTCATCCTGTACTCAGAATCCACC[C/T]ACGTCATCCTGTGCCTCATCTCCAT
- Phenotype
-
MIM: 600042
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MC5R
PubMed Links
Gene Details
- Gene
- MC5R
- Gene Name
- melanocortin 5 receptor
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_005913.2 |
775 |
Missense Mutation |
CAC,TAC |
H185Y |
NP_005904.1 |
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