Product Details
- SNP ID
-
rs139136931
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:55685269 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGCACGGTGGCCTCGGGGTGCTTC[A/G]CCCGTTTGAAGAATCCCATCTATAA
- 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 |
3094 |
Missense Mutation |
GCG,GTG |
A1072V |
NP_001138468.1 |
NM_001144997.1 |
3094 |
Missense Mutation |
GCG,GTG |
A975V |
NP_001138469.1 |
NM_002206.2 |
3094 |
Missense Mutation |
GCG,GTG |
A1068V |
NP_002197.2 |
XM_005268839.1 |
3094 |
Missense Mutation |
GCG,GTG |
A1112V |
XP_005268896.1 |
XM_005268840.1 |
3094 |
Missense Mutation |
GCG,GTG |
A1106V |
XP_005268897.1 |
XM_005268841.1 |
3094 |
Nonsense Mutation |
CGA,TGA |
R1150* |
XP_005268898.1 |
XM_005268842.1 |
3094 |
Missense Mutation |
GCG,GTG |
A1062V |
XP_005268899.1 |
XM_005268844.1 |
3094 |
Missense Mutation |
GCG,GTG |
A999V |
XP_005268901.1 |
XM_005268846.1 |
3094 |
Missense Mutation |
GCG,GTG |
A955V |
XP_005268903.1 |
XM_005268848.1 |
3094 |
Missense Mutation |
GCG,GTG |
A954V |
XP_005268905.1 |
XM_005268849.1 |
3094 |
Missense Mutation |
GCG,GTG |
A954V |
XP_005268906.1 |
XM_005268850.1 |
3094 |
Missense Mutation |
GCG,GTG |
A910V |
XP_005268907.1 |
XM_017019265.1 |
3094 |
Missense Mutation |
GCG,GTG |
A982V |
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 |
3094 |
Intron |
|
|
NP_689850.2 |
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