Product Details
- SNP ID
-
rs200485048
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:55685185 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGTTGTTCCTCAGGATGGTGCCC[A/G]TCTTCTCCTCCTTGAACTGCTGTCG
- Phenotype
-
MIM: 600536
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ITGA7
PubMed Links
Gene Details
- Gene
- ITGA7
- Gene Name
- integrin subunit alpha 7
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001144996.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1100M |
NP_001138468.1 |
| NM_001144997.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1003M |
NP_001138469.1 |
| NM_002206.2 |
3178 |
Missense Mutation |
ACG,ATG |
T1096M |
NP_002197.2 |
| XM_005268839.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1140M |
XP_005268896.1 |
| XM_005268840.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1134M |
XP_005268897.1 |
| XM_005268841.1 |
3178 |
UTR 3 |
|
|
XP_005268898.1 |
| XM_005268842.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1090M |
XP_005268899.1 |
| XM_005268844.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1027M |
XP_005268901.1 |
| XM_005268846.1 |
3178 |
Missense Mutation |
ACG,ATG |
T983M |
XP_005268903.1 |
| XM_005268848.1 |
3178 |
Missense Mutation |
ACG,ATG |
T982M |
XP_005268905.1 |
| XM_005268849.1 |
3178 |
Missense Mutation |
ACG,ATG |
T982M |
XP_005268906.1 |
| XM_005268850.1 |
3178 |
Missense Mutation |
ACG,ATG |
T938M |
XP_005268907.1 |
| XM_017019265.1 |
3178 |
Missense Mutation |
ACG,ATG |
T1010M |
XP_016874754.1 |
- Gene
- METTL7B
- Gene Name
- methyltransferase like 7B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_152637.2 |
3178 |
Intron |
|
|
NP_689850.2 |
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