Product Details

SNP ID

rs199845843

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65377039 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGGCTCTGTCTGGTTTTGTAGC[C/T]GGACTTTGATGAGGTCAAAAGGAGC

Phenotype

MIM: 610825

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FRMD8 PubMed Links

Gene Details

Gene

FRMD8

Gene Name

FERM domain containing 8

There are no transcripts associated with this gene.

Gene

SLC25A45

Gene Name

solute carrier family 25 member 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077241.2	1386	Missense Mutation	CAG,CGG	Q84R	NP_001070709.2
NM_001278250.2	1386	Missense Mutation	CAG,CGG	Q102R	NP_001265179.2
NM_001278251.2	1386	Missense Mutation	CAG,CGG	Q84R	NP_001265180.2
NM_001300820.1	1386	Missense Mutation	CAG,CGG	Q64R	NP_001287749.1
NM_182556.3	1386	Missense Mutation	CAG,CGG	Q126R	NP_872362.3
XM_006718509.3	1386	Missense Mutation	CAG,CGG	Q84R	XP_006718572.1
XM_006718510.3	1386	Missense Mutation	CAG,CGG	Q84R	XP_006718573.1
XM_011544943.2	1386	Missense Mutation	CAG,CGG	Q84R	XP_011543245.1
XM_011544944.2	1386	Missense Mutation	CAG,CGG	Q84R	XP_011543246.1
XM_011544947.2	1386	Missense Mutation	CAG,CGG	Q126R	XP_011543249.1
XM_011544949.2	1386	Missense Mutation	CAG,CGG	Q84R	XP_011543251.1
XM_017017562.1	1386	Missense Mutation	CAG,CGG	Q126R	XP_016873051.1
XM_017017563.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873052.1
XM_017017564.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873053.1
XM_017017565.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873054.1
XM_017017566.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873055.1
XM_017017567.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873056.1
XM_017017568.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873057.1
XM_017017569.1	1386	Missense Mutation	CAG,CGG	Q84R	XP_016873058.1
XM_017017570.1	1386	Missense Mutation	CAG,CGG	Q22R	XP_016873059.1
XM_017017571.1	1386	Missense Mutation	CAG,CGG	Q22R	XP_016873060.1

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