Product Details
- SNP ID
-
rs199766318
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:11350925 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAAGGCCTTCAGGGGCTGGAGAAGA[C/T]CCTGCGTGACAGTGAGGAGATGCAG
- Phenotype
-
MIM: 613771
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC159
PubMed Links
Gene Details
- Gene
- CCDC159
- Gene Name
- coiled-coil domain containing 159
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001080503.2 |
615 |
Missense Mutation |
ACC,ATC |
T115I |
NP_001073972.2 |
XM_006722643.1 |
615 |
Missense Mutation |
ACC,ATC |
T151I |
XP_006722706.1 |
XM_011527678.2 |
615 |
Missense Mutation |
ACC,ATC |
T114I |
XP_011525980.2 |
XM_017026255.1 |
615 |
Missense Mutation |
ACC,ATC |
T151I |
XP_016881744.1 |
XM_017026256.1 |
615 |
Missense Mutation |
ACC,ATC |
T149I |
XP_016881745.1 |
XM_017026257.1 |
615 |
Missense Mutation |
ACC,ATC |
T124I |
XP_016881746.1 |
XM_017026258.1 |
615 |
Missense Mutation |
ACC,ATC |
T115I |
XP_016881747.1 |
XM_017026259.1 |
615 |
Missense Mutation |
ACC,ATC |
T114I |
XP_016881748.1 |
XM_017026260.1 |
615 |
Missense Mutation |
ACC,ATC |
T114I |
XP_016881749.1 |
XM_017026261.1 |
615 |
Missense Mutation |
ACC,ATC |
T92I |
XP_016881750.1 |
XM_017026262.1 |
615 |
Missense Mutation |
ACC,ATC |
T92I |
XP_016881751.1 |
XM_017026263.1 |
615 |
Missense Mutation |
ACC,ATC |
T92I |
XP_016881752.1 |
XM_017026264.1 |
615 |
Missense Mutation |
ACC,ATC |
T92I |
XP_016881753.1 |
- Gene
- PLPPR2
- Gene Name
- phospholipid phosphatase related 2
There are no transcripts associated with this gene.
- Gene
- TMEM205
- Gene Name
- transmembrane protein 205
There are no transcripts associated with this gene.
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