Product Details
- SNP ID
-
rs202200570
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:101828630 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCTTGGGCCTTGTCCCCTCACCTC[A/C]TTGAGGAAAGAACTGGGAGTAAATC
- Phenotype
-
MIM: 604661
MIM: 604039
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
KCNIP2
PubMed Links
Gene Details
- Gene
- KCNIP2
- Gene Name
- potassium voltage-gated channel interacting protein 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_014591.4 |
572 |
Nonsense Mutation |
GGA,TGA |
G154* |
NP_055406.2 |
| NM_173191.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G139* |
NP_775283.1 |
| NM_173192.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G121* |
NP_775284.1 |
| NM_173193.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G96* |
NP_775285.1 |
| NM_173194.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G94* |
NP_775286.1 |
| NM_173195.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G89* |
NP_775287.1 |
| NM_173197.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G89* |
NP_775289.1 |
| XM_005269729.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G121* |
XP_005269786.1 |
| XM_005269730.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G89* |
XP_005269787.1 |
| XM_006717812.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G139* |
XP_006717875.1 |
| XM_011539731.2 |
572 |
Nonsense Mutation |
GGA,TGA |
G94* |
XP_011538033.1 |
| XM_017016161.1 |
572 |
Nonsense Mutation |
GGA,TGA |
G99* |
XP_016871650.1 |
- Gene
- KCNIP2-AS1
- Gene Name
- KCNIP2 antisense RNA 1
There are no transcripts associated with this gene.
- Gene
- MGEA5
- Gene Name
- meningioma expressed antigen 5 (hyaluronidase)
There are no transcripts associated with this gene.
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