Product Details
- SNP ID
-
rs138433752
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:131506193 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTCTTGGATGACAGTGGGCCGCCA[C/T]TTGGCCACATGGTGCTGGCCTTGGG
- Phenotype
-
MIM: 607423
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
POMT1
PubMed Links
Gene Details
- Gene
- POMT1
- Gene Name
- protein O-mannosyltransferase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001077365.1 |
404 |
Missense Mutation |
CTT,TTT |
L68F |
NP_001070833.1 |
NM_001077366.1 |
404 |
Missense Mutation |
CTT,TTT |
L14F |
NP_001070834.1 |
NM_001136113.1 |
404 |
Missense Mutation |
CTT,TTT |
L68F |
NP_001129585.1 |
NM_001136114.1 |
404 |
Intron |
|
|
NP_001129586.1 |
NM_007171.3 |
404 |
Missense Mutation |
CTT,TTT |
L68F |
NP_009102.3 |
XM_005272156.1 |
404 |
Missense Mutation |
CTT,TTT |
L68F |
XP_005272213.1 |
XM_005272158.1 |
404 |
Missense Mutation |
CTT,TTT |
L14F |
XP_005272215.1 |
XM_005272159.1 |
404 |
Intron |
|
|
XP_005272216.1 |
XM_005272162.2 |
404 |
UTR 5 |
|
|
XP_005272219.1 |
XM_006716932.1 |
404 |
Intron |
|
|
XP_006716995.1 |
XM_011518140.1 |
404 |
Missense Mutation |
CTT,TTT |
L68F |
XP_011516442.1 |
XM_011518141.1 |
404 |
Missense Mutation |
CTT,TTT |
L68F |
XP_011516443.1 |
XM_011518142.1 |
404 |
Missense Mutation |
CTT,TTT |
L14F |
XP_011516444.1 |
XM_011518143.1 |
404 |
Intron |
|
|
XP_011516445.1 |
XM_011518145.1 |
404 |
Intron |
|
|
XP_011516447.1 |
XM_017014203.1 |
404 |
Missense Mutation |
CTT,TTT |
L14F |
XP_016869692.1 |
XM_017014204.1 |
404 |
UTR 5 |
|
|
XP_016869693.1 |
XM_017014205.1 |
404 |
UTR 5 |
|
|
XP_016869694.1 |
- Gene
- PRRC2B
- Gene Name
- proline rich coiled-coil 2B
There are no transcripts associated with this gene.
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