Product Details

SNP ID
rs1060098
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:13645622 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACAAATGTGGTGCATGACAGTAA[A/C]TGATGATGTAGACACATGGGCCCTT
Phenotype
MIM: 616305 MIM: 604993
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
FRMD4A PubMed Links

Gene Details

Gene
FRMD4A
Gene Name
FERM domain containing 4A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318336.1 4965 UTR 3 NP_001305265.1
NM_001318337.1 4965 UTR 3 NP_001305266.1
NM_001318338.1 4965 UTR 3 NP_001305267.1
NM_018027.4 4965 UTR 3 NP_060497.3
XM_005252489.2 4965 Intron XP_005252546.1
XM_005252490.2 4965 Intron XP_005252547.1
XM_005252495.4 4965 Intron XP_005252552.1
XM_006717457.2 4965 Intron XP_006717520.1
XM_006717458.3 4965 Intron XP_006717521.1
XM_006717459.2 4965 Intron XP_006717522.1
XM_006717460.2 4965 Intron XP_006717523.1
XM_006717464.1 4965 Intron XP_006717527.1
XM_011519539.1 4965 Intron XP_011517841.1
XM_011519540.1 4965 Intron XP_011517842.1
XM_011519541.1 4965 Intron XP_011517843.1
XM_011519543.2 4965 Intron XP_011517845.1
XM_017016393.1 4965 Intron XP_016871882.1
XM_017016394.1 4965 Intron XP_016871883.1
XM_017016395.1 4965 Intron XP_016871884.1
XM_017016396.1 4965 Intron XP_016871885.1
Gene
LOC101928524
Gene Name
uncharacterized LOC101928524
There are no transcripts associated with this gene.

Gene
PRPF18
Gene Name
pre-mRNA processing factor 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003675.3 4965 Intron NP_003666.1
XM_011519754.2 4965 Intron XP_011518056.1
XM_017016860.1 4965 Intron XP_016872349.1

View Full Product Details