Product Details
- SNP ID
-
rs192094502
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:20744928 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGTTTCTTGATGACTGTGGATGAGG[A/G]TCTGGTCTTCTTGGCAGGCGTTTTG
- Phenotype
-
MIM: 616072
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
HP1BP3
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs17448349] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- HP1BP3
- Gene Name
- heterochromatin protein 1 binding protein 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_016287.3 |
2107 |
Missense Mutation |
CCC,TCC |
P511S |
NP_057371.2 |
XM_005245875.4 |
2107 |
Missense Mutation |
CCC,TCC |
P511S |
XP_005245932.1 |
XM_005245876.3 |
2107 |
Missense Mutation |
CCC,TCC |
P511S |
XP_005245933.1 |
XM_005245877.4 |
2107 |
Missense Mutation |
CCC,TCC |
P511S |
XP_005245934.1 |
XM_005245878.4 |
2107 |
Missense Mutation |
CCC,TCC |
P511S |
XP_005245935.1 |
XM_005245879.4 |
2107 |
Missense Mutation |
CCC,TCC |
P473S |
XP_005245936.1 |
XM_011541532.1 |
2107 |
Missense Mutation |
CCC,TCC |
P473S |
XP_011539834.1 |
XM_011541533.1 |
2107 |
Missense Mutation |
CCC,TCC |
P473S |
XP_011539835.1 |
XM_011541534.2 |
2107 |
Missense Mutation |
CCC,TCC |
P473S |
XP_011539836.1 |
XM_017001393.1 |
2107 |
Missense Mutation |
CCC,TCC |
P511S |
XP_016856882.1 |
XM_017001394.1 |
2107 |
Missense Mutation |
CCC,TCC |
P473S |
XP_016856883.1 |
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