Product Details
- SNP ID
-
rs104893643
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:27092357 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGTTTGTCCCAGAGATGGCAGCGC[A/G]GAGGCAACGCGTCCAACTCCTGCAC
- Phenotype
-
MIM: 606137
MIM: 130660
MIM: 614058
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CGREF1
PubMed Links
Gene Details
- Gene
- CGREF1
- Gene Name
- cell growth regulator with EF-hand domain 1
There are no transcripts associated with this gene.
- Gene
- EMILIN1
- Gene Name
- elastin microfibril interfacer 1
There are no transcripts associated with this gene.
- Gene
- KHK
- Gene Name
- ketohexokinase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000221.2 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
NP_000212.1 |
NM_006488.2 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
NP_006479.1 |
XM_005264294.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_005264351.1 |
XM_005264296.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_005264353.1 |
XM_005264298.3 |
640 |
Intron |
|
|
XP_005264355.1 |
XM_006712008.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_006712071.1 |
XM_006712009.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_006712072.1 |
XM_006712010.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_006712073.1 |
XM_006712011.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_006712074.1 |
XM_006712012.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_006712075.1 |
XM_006712013.3 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_006712076.1 |
XM_006712014.3 |
640 |
Intron |
|
|
XP_006712077.1 |
XM_017004060.1 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_016859549.1 |
XM_017004061.1 |
640 |
Missense Mutation |
AGA,GGA |
R40G |
XP_016859550.1 |
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