Product Details
- SNP ID
-
rs139658465
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:138589369 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTGGGAGGCCAGGATGTCCAGCTG[G/T]TCCTGTCTCCCCTTGAGGGCCAGGG
- Phenotype
-
MIM: 610026
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
COL22A1
PubMed Links
Gene Details
- Gene
- COL22A1
- Gene Name
- collagen type XXII alpha 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_152888.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1589S |
NP_690848.1 |
XM_011516883.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1569S |
XP_011515185.1 |
XM_011516884.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1556S |
XP_011515186.1 |
XM_011516885.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1551S |
XP_011515187.1 |
XM_011516886.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1540S |
XP_011515188.1 |
XM_011516887.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1227S |
XP_011515189.1 |
XM_011516888.2 |
3364 |
Intron |
|
|
XP_011515190.1 |
XM_011516889.2 |
3364 |
Missense Mutation |
GCA,TCA |
A1021S |
XP_011515191.1 |
XM_017013150.1 |
3364 |
Missense Mutation |
GCA,TCA |
A1527S |
XP_016868639.1 |
XM_017013151.1 |
3364 |
Missense Mutation |
GCA,TCA |
A1515S |
XP_016868640.1 |
XM_017013152.1 |
3364 |
Missense Mutation |
GCA,TCA |
A1227S |
XP_016868641.1 |
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