Product Details
- SNP ID
-
rs114064359
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:19194041 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTGAAGACCCCGGAGAGGAGGCTG[C/T]AGATGGCTCAGACACTGTGGTCCTC
- Phenotype
-
MIM: 616601
MIM: 608719
MIM: 603200
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
BORCS8
PubMed Links
Gene Details
- Gene
- BORCS8
- Gene Name
- BLOC-1 related complex subunit 8
There are no transcripts associated with this gene.
- Gene
- BORCS8-MEF2B
- Gene Name
- BORCS8-MEF2B readthrough
There are no transcripts associated with this gene.
- Gene
- NR2C2AP
- Gene Name
- nuclear receptor 2C2 associated protein
There are no transcripts associated with this gene.
- Gene
- RFXANK
- Gene Name
- regulatory factor X associated ankyrin containing protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001278727.1 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
NP_001265656.1 |
| NM_001278728.1 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
NP_001265657.1 |
| NM_003721.3 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
NP_003712.1 |
| NM_134440.2 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
NP_604389.1 |
| XM_005260134.4 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_005260191.1 |
| XM_005260135.3 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_005260192.1 |
| XM_005260136.4 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_005260193.1 |
| XM_005260137.4 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_005260194.1 |
| XM_006722930.3 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_006722993.1 |
| XM_017027415.1 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_016882904.1 |
| XM_017027416.1 |
433 |
Missense Mutation |
GCA,GTA |
A32V |
XP_016882905.1 |
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