Product Details

SNP ID
rs1062719
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:13644488 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTTGACTACCAGACTATCATGAT[A/G]TTTGTTGGAACTGTAATTCCTGCTC
Phenotype
MIM: 616305 MIM: 604993
Polymorphism
A/G, Transition 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 6099 UTR 3 NP_001305265.1
NM_001318337.1 6099 UTR 3 NP_001305266.1
NM_001318338.1 6099 UTR 3 NP_001305267.1
NM_018027.4 6099 UTR 3 NP_060497.3
XM_005252489.2 6099 Intron XP_005252546.1
XM_005252490.2 6099 Intron XP_005252547.1
XM_005252495.4 6099 Intron XP_005252552.1
XM_006717457.2 6099 Intron XP_006717520.1
XM_006717458.3 6099 Intron XP_006717521.1
XM_006717459.2 6099 Intron XP_006717522.1
XM_006717460.2 6099 Intron XP_006717523.1
XM_006717464.1 6099 Intron XP_006717527.1
XM_011519539.1 6099 Intron XP_011517841.1
XM_011519540.1 6099 Intron XP_011517842.1
XM_011519541.1 6099 Intron XP_011517843.1
XM_011519543.2 6099 Intron XP_011517845.1
XM_017016393.1 6099 Intron XP_016871882.1
XM_017016394.1 6099 Intron XP_016871883.1
XM_017016395.1 6099 Intron XP_016871884.1
XM_017016396.1 6099 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 6099 Intron NP_003666.1
XM_011519754.2 6099 Intron XP_011518056.1
XM_017016860.1 6099 Intron XP_016872349.1

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