Product Details

SNP ID

rs13005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:13643766 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAACACTGTTTTGCAAAATGTAAAG[A/G]TACTATACAAATTCTTAATACAAAA

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	6821	UTR 3			NP_001305265.1
NM_001318337.1	6821	UTR 3			NP_001305266.1
NM_001318338.1	6821	UTR 3			NP_001305267.1
NM_018027.4	6821	UTR 3			NP_060497.3
XM_005252489.2	6821	Intron			XP_005252546.1
XM_005252490.2	6821	Intron			XP_005252547.1
XM_005252495.4	6821	Intron			XP_005252552.1
XM_006717457.2	6821	Intron			XP_006717520.1
XM_006717458.3	6821	Intron			XP_006717521.1
XM_006717459.2	6821	Intron			XP_006717522.1
XM_006717460.2	6821	Intron			XP_006717523.1
XM_006717464.1	6821	Intron			XP_006717527.1
XM_011519539.1	6821	Intron			XP_011517841.1
XM_011519540.1	6821	Intron			XP_011517842.1
XM_011519541.1	6821	Intron			XP_011517843.1
XM_011519543.2	6821	Intron			XP_011517845.1
XM_017016393.1	6821	Intron			XP_016871882.1
XM_017016394.1	6821	Intron			XP_016871883.1
XM_017016395.1	6821	Intron			XP_016871884.1
XM_017016396.1	6821	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	6821	Intron			NP_003666.1
XM_011519754.2	6821	Intron			XP_011518056.1
XM_017016860.1	6821	Intron			XP_016872349.1

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