Product Details
- SNP ID
-
rs142046508
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
7
- Location
-
Chr.1:24360931 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CACGAATGATGCACTAGAGATGAAA[C/T]GCTTGCGGGGGCCTAAGTAGTCCAC
- Phenotype
-
MIM: 608317
MIM: 615826
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GRHL3
PubMed Links
Gene Details
- Gene
- GRHL3
- Gene Name
- grainyhead like transcription factor 3
- Gene
- STPG1
- Gene Name
- sperm tail PG-rich repeat containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001199012.1 |
1234 |
Missense Mutation |
CAT,CGT |
H283R |
NP_001185941.1 |
NM_001199013.1 |
1234 |
Missense Mutation |
CAT,CGT |
H283R |
NP_001185942.1 |
NM_001199014.1 |
1234 |
Missense Mutation |
CAT,CGT |
H191R |
NP_001185943.1 |
NM_178122.4 |
1234 |
Missense Mutation |
CAT,CGT |
H236R |
NP_835223.1 |
XM_006711025.2 |
1234 |
Missense Mutation |
CAT,CGT |
H283R |
XP_006711088.1 |
XM_011542403.2 |
1234 |
Missense Mutation |
CAT,CGT |
H315R |
XP_011540705.1 |
XM_011542404.1 |
1234 |
Missense Mutation |
CAT,CGT |
H283R |
XP_011540706.1 |
XM_017002768.1 |
1234 |
Missense Mutation |
CAT,CGT |
H236R |
XP_016858257.1 |
XM_017002769.1 |
1234 |
Missense Mutation |
CAT,CGT |
H191R |
XP_016858258.1 |
XM_017002770.1 |
1234 |
Missense Mutation |
CAT,CGT |
H191R |
XP_016858259.1 |
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