Product Details
- SNP ID
-
rs150215982
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:8855232 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTGGTGCCAGGTGAGTGATGACGA[C/T]CTCCACGGCCTGCAGCTTCTCATTC
- Phenotype
-
MIM: 616885
MIM: 601785
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CARHSP1
PubMed Links
Gene Details
- Gene
- CARHSP1
- Gene Name
- calcium regulated heat stable protein 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001042476.2 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001035941.1 |
NM_001278260.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265189.1 |
NM_001278261.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265190.1 |
NM_001278262.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265191.1 |
NM_001278263.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265192.1 |
NM_001278264.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265193.1 |
NM_001278265.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265194.1 |
NM_001278266.1 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_001265195.1 |
NM_014316.3 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
NP_055131.2 |
XM_005255228.4 |
405 |
Missense Mutation |
ATC,GTC |
I147V |
XP_005255285.3 |
XM_005255229.4 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
XP_005255286.1 |
XM_011522444.2 |
405 |
Missense Mutation |
ATC,GTC |
I126V |
XP_011520746.1 |
- Gene
- PMM2
- Gene Name
- phosphomannomutase 2
There are no transcripts associated with this gene.
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