Product Details

SNP ID
rs149659335
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:19197206 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGCCCTGTCCATCCACCAGCTC[A/G]CAGCACAGGGGGAGCTGGACCAGCT
Phenotype
MIM: 616601 MIM: 608719 MIM: 603200
Polymorphism
A/G, 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_001278727.1 627 Intron NP_001265656.1
NM_001278728.1 627 Intron NP_001265657.1
NM_003721.3 627 Missense Mutation ACA,GCA T98A NP_003712.1
NM_134440.2 627 Intron NP_604389.1
XM_005260134.4 627 Missense Mutation ACA,GCA T98A XP_005260191.1
XM_005260135.3 627 Missense Mutation ACA,GCA T98A XP_005260192.1
XM_005260136.4 627 Missense Mutation ACA,GCA T97A XP_005260193.1
XM_005260137.4 627 Missense Mutation ACA,GCA T97A XP_005260194.1
XM_006722930.3 627 Missense Mutation ACA,GCA T97A XP_006722993.1
XM_017027415.1 627 Missense Mutation ACA,GCA T98A XP_016882904.1
XM_017027416.1 627 Intron XP_016882905.1

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