Product Details
- SNP ID
-
rs199792602
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:26448807 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGCTTTTCGGTTTTGTTCAGGTT[C/T]TCCACTCACAGTGACAACCCTCTCT
- Phenotype
-
MIM: 602157
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NOVA1
PubMed Links
Gene Details
- Gene
- NOVA1
- Gene Name
- NOVA alternative splicing regulator 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_002515.2 |
1050 |
Missense Mutation |
AAA,GAA |
K226E |
NP_002506.2 |
NM_006489.2 |
1050 |
Missense Mutation |
AAA,GAA |
K202E |
NP_006480.2 |
NM_006491.2 |
1050 |
Intron |
|
|
NP_006482.1 |
XM_011536800.2 |
1050 |
Missense Mutation |
AAA,GAA |
K80E |
XP_011535102.1 |
XM_017021342.1 |
1050 |
Missense Mutation |
AAA,GAA |
K189E |
XP_016876831.1 |
XM_017021343.1 |
1050 |
Missense Mutation |
AAA,GAA |
K165E |
XP_016876832.1 |
XM_017021344.1 |
1050 |
Missense Mutation |
AAA,GAA |
K104E |
XP_016876833.1 |
XM_017021345.1 |
1050 |
Missense Mutation |
AAA,GAA |
K104E |
XP_016876834.1 |
XM_017021346.1 |
1050 |
Missense Mutation |
AAA,GAA |
K104E |
XP_016876835.1 |
XM_017021347.1 |
1050 |
Missense Mutation |
AAA,GAA |
K104E |
XP_016876836.1 |
XM_017021348.1 |
1050 |
Missense Mutation |
AAA,GAA |
K104E |
XP_016876837.1 |
XM_017021349.1 |
1050 |
Missense Mutation |
AAA,GAA |
K80E |
XP_016876838.1 |
View Full Product Details