Product Details
- SNP ID
-
rs150453080
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:101579683 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGGTGAAGTAGAGCAGGGCACAGG[C/T]AAACTCGCTATAGGGCACCACGATG
- Phenotype
-
MIM: 616467
MIM: 606343
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DPCD
PubMed Links
Gene Details
- Gene
- DPCD
- Gene Name
- deleted in primary ciliary dyskinesia homolog (mouse)
There are no transcripts associated with this gene.
- Gene
- POLL
- Gene Name
- polymerase (DNA) lambda
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001174084.1 |
1993 |
Missense Mutation |
ACC,GCC |
T500A |
NP_001167555.1 |
NM_001174085.1 |
1993 |
Missense Mutation |
ACC,GCC |
T408A |
NP_001167556.1 |
NM_001308382.1 |
1993 |
Missense Mutation |
ACC,GCC |
T225A |
NP_001295311.1 |
NM_013274.3 |
1993 |
Missense Mutation |
ACC,GCC |
T500A |
NP_037406.1 |
XM_006717775.1 |
1993 |
Missense Mutation |
ACC,GCC |
T239A |
XP_006717838.1 |
XM_006717776.1 |
1993 |
Missense Mutation |
ACC,GCC |
T239A |
XP_006717839.1 |
XM_006717777.1 |
1993 |
Missense Mutation |
ACC,GCC |
T225A |
XP_006717840.1 |
XM_011539650.1 |
1993 |
Missense Mutation |
ACC,GCC |
T507A |
XP_011537952.1 |
XM_011539651.1 |
1993 |
Missense Mutation |
ACC,GCC |
T500A |
XP_011537953.1 |
XM_011539652.1 |
1993 |
Missense Mutation |
ACC,GCC |
T507A |
XP_011537954.1 |
XM_011539653.1 |
1993 |
Missense Mutation |
ACC,GCC |
T507A |
XP_011537955.1 |
XM_011539654.1 |
1993 |
Missense Mutation |
ACC,GCC |
T415A |
XP_011537956.1 |
XM_011539655.1 |
1993 |
Missense Mutation |
ACC,GCC |
T408A |
XP_011537957.1 |
XM_011539656.1 |
1993 |
Missense Mutation |
ACC,GCC |
T401A |
XP_011537958.1 |
XM_011539657.1 |
1993 |
Missense Mutation |
ACC,GCC |
T419A |
XP_011537959.1 |
XM_011539659.1 |
1993 |
Missense Mutation |
ACC,GCC |
T338A |
XP_011537961.1 |
XM_011539660.1 |
1993 |
Missense Mutation |
ACC,GCC |
T338A |
XP_011537962.1 |
XM_011539662.1 |
1993 |
Missense Mutation |
ACC,GCC |
T246A |
XP_011537964.1 |
XM_011539663.1 |
1993 |
Missense Mutation |
ACC,GCC |
T246A |
XP_011537965.1 |
XM_011539664.1 |
1993 |
Missense Mutation |
ACC,GCC |
T232A |
XP_011537966.1 |
XM_011539665.2 |
1993 |
Missense Mutation |
ACC,GCC |
T232A |
XP_011537967.1 |
XM_011539666.1 |
1993 |
Missense Mutation |
ACC,GCC |
T232A |
XP_011537968.1 |
XM_011539667.1 |
1993 |
Missense Mutation |
ACC,GCC |
T192A |
XP_011537969.1 |
XM_017016084.1 |
1993 |
Missense Mutation |
ACC,GCC |
T406A |
XP_016871573.1 |
XM_017016085.1 |
1993 |
Missense Mutation |
ACC,GCC |
T399A |
XP_016871574.1 |
XM_017016086.1 |
1993 |
Missense Mutation |
ACC,GCC |
T394A |
XP_016871575.1 |
XM_017016087.1 |
1993 |
Missense Mutation |
ACC,GCC |
T314A |
XP_016871576.1 |
XM_017016088.1 |
1993 |
Intron |
|
|
XP_016871577.1 |
XM_017016089.1 |
1993 |
Missense Mutation |
ACC,GCC |
T338A |
XP_016871578.1 |
XM_017016090.1 |
1993 |
UTR 3 |
|
|
XP_016871579.1 |
XM_017016091.1 |
1993 |
Missense Mutation |
ACC,GCC |
T331A |
XP_016871580.1 |
XM_017016092.1 |
1993 |
Intron |
|
|
XP_016871581.1 |
XM_017016093.1 |
1993 |
Missense Mutation |
ACC,GCC |
T232A |
XP_016871582.1 |
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