Product Details
- SNP ID
-
rs147953306
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:15779117 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGGGATCTTCAAAACCCATCACAA[C/G]TGCAGTCCCTTCTACGTACATGACC
- Phenotype
-
MIM: 611649
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FAM188A
PubMed Links
Gene Details
- Gene
- FAM188A
- Gene Name
- family with sequence similarity 188 member A
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001318330.1 |
1433 |
Missense Mutation |
CTT,GTT |
L232V |
NP_001305259.1 |
NM_024948.3 |
1433 |
Missense Mutation |
CTT,GTT |
L405V |
NP_079224.1 |
XM_005252600.2 |
1433 |
Missense Mutation |
CTT,GTT |
L232V |
XP_005252657.1 |
XM_005252602.2 |
1433 |
Missense Mutation |
CTT,GTT |
L232V |
XP_005252659.1 |
XM_006717508.2 |
1433 |
Missense Mutation |
CTT,GTT |
L378V |
XP_006717571.1 |
XM_011519690.2 |
1433 |
Intron |
|
|
XP_011517992.1 |
XM_011519691.2 |
1433 |
Intron |
|
|
XP_011517993.1 |
XM_011519693.1 |
1433 |
Missense Mutation |
CTT,GTT |
L258V |
XP_011517995.1 |
XM_011519694.1 |
1433 |
Missense Mutation |
CTT,GTT |
L232V |
XP_011517996.1 |
XM_017016671.1 |
1433 |
Intron |
|
|
XP_016872160.1 |
XM_017016672.1 |
1433 |
Missense Mutation |
CTT,GTT |
L258V |
XP_016872161.1 |
XM_017016673.1 |
1433 |
Missense Mutation |
CTT,GTT |
L232V |
XP_016872162.1 |
XM_017016674.1 |
1433 |
Missense Mutation |
CTT,GTT |
L205V |
XP_016872163.1 |
XM_017016675.1 |
1433 |
Missense Mutation |
CTT,GTT |
L205V |
XP_016872164.1 |
XM_017016676.1 |
1433 |
Missense Mutation |
CTT,GTT |
L205V |
XP_016872165.1 |
View Full Product Details