Product Details
- SNP ID
-
rs192365960
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
6
- Location
-
Chr.1:35435035 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCATCGCTGTCCAGCTCTGACTC[A/G]GAGTGCATCAGGCTGCTACTTAGCA
- Phenotype
-
MIM: 613535
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KIAA0319L
PubMed Links
Gene Details
- Gene
- KIAA0319L
- Gene Name
- KIAA0319 like
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_024874.4 |
2725 |
Silent Mutation |
TCC,TCT |
S1003S |
NP_079150.3 |
XM_006710907.1 |
2725 |
Silent Mutation |
TCC,TCT |
S1003S |
XP_006710970.1 |
XM_006710909.1 |
2725 |
Silent Mutation |
TCC,TCT |
S1003S |
XP_006710972.1 |
XM_006710910.1 |
2725 |
Silent Mutation |
TCC,TCT |
S645S |
XP_006710973.1 |
XM_011542179.2 |
2725 |
Silent Mutation |
TCC,TCT |
S1003S |
XP_011540481.1 |
XM_011542180.1 |
2725 |
UTR 3 |
|
|
XP_011540482.1 |
XM_017002366.1 |
2725 |
Silent Mutation |
TCC,TCT |
S1008S |
XP_016857855.1 |
XM_017002367.1 |
2725 |
Silent Mutation |
TCC,TCT |
S1008S |
XP_016857856.1 |
XM_017002368.1 |
2725 |
Silent Mutation |
TCC,TCT |
S1008S |
XP_016857857.1 |
XM_017002369.1 |
2725 |
Silent Mutation |
TCC,TCT |
S1008S |
XP_016857858.1 |
XM_017002370.1 |
2725 |
UTR 3 |
|
|
XP_016857859.1 |
XM_017002371.1 |
2725 |
Intron |
|
|
XP_016857860.1 |
XM_017002372.1 |
2725 |
UTR 3 |
|
|
XP_016857861.1 |
XM_017002373.1 |
2725 |
Intron |
|
|
XP_016857862.1 |
XM_017002374.1 |
2725 |
Silent Mutation |
TCC,TCT |
S650S |
XP_016857863.1 |
XM_017002375.1 |
2725 |
Silent Mutation |
TCC,TCT |
S650S |
XP_016857864.1 |
XM_017002376.1 |
2725 |
Silent Mutation |
TCC,TCT |
S645S |
XP_016857865.1 |
XM_017002377.1 |
2725 |
UTR 3 |
|
|
XP_016857866.1 |
XM_017002378.1 |
2725 |
Silent Mutation |
TCC,TCT |
S445S |
XP_016857867.1 |
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