Product Details
- SNP ID
-
rs144032908
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:33414069 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTATGAATTTGAATGCTGTGTGTGT[C/T]GCGGGGGCCCTGAGAAAGTCCGGAG
- Phenotype
-
MIM: 616953
MIM: 603763
MIM: 602881
MIM: 603384
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CUTA
PubMed Links
Gene Details
- Gene
- CUTA
- Gene Name
- cutA divalent cation tolerance homolog (E. coli)
There are no transcripts associated with this gene.
- Gene
- KIFC1
- Gene Name
- kinesin family member C1
There are no transcripts associated with this gene.
- Gene
- PHF1
- Gene Name
- PHD finger protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_002636.4 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
NP_002627.1 |
| NM_024165.2 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
NP_077084.1 |
| XM_011514662.1 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
XP_011512964.1 |
| XM_011514663.1 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
XP_011512965.1 |
| XM_011514664.1 |
769 |
Missense Mutation |
CGC,TGC |
R206C |
XP_011512966.1 |
| XM_011514665.1 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
XP_011512967.1 |
| XM_011514666.1 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
XP_011512968.1 |
| XM_011514669.1 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
XP_011512971.1 |
| XM_011514670.2 |
769 |
Missense Mutation |
CGC,TGC |
R238C |
XP_011512972.1 |
| XM_017010939.1 |
769 |
Silent Mutation |
GTC,GTT |
V8V |
XP_016866428.1 |
- Gene
- SYNGAP1
- Gene Name
- synaptic Ras GTPase activating protein 1
There are no transcripts associated with this gene.
View Full Product Details