Product Details

SNP ID

rs199936582

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65376970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCCGGAAGATGGAGGCTGCACAG[C/T]GCACGGGCCCCTGGTACCGGGGTGG

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	1455	Missense Mutation	CAC,CGC	H107R	NP_001070709.2
NM_001278250.2	1455	Missense Mutation	CAC,CGC	H125R	NP_001265179.2
NM_001278251.2	1455	Missense Mutation	CAC,CGC	H107R	NP_001265180.2
NM_001300820.1	1455	Missense Mutation	CAC,CGC	H87R	NP_001287749.1
NM_182556.3	1455	Missense Mutation	CAC,CGC	H149R	NP_872362.3
XM_006718509.3	1455	Missense Mutation	CAC,CGC	H107R	XP_006718572.1
XM_006718510.3	1455	Missense Mutation	CAC,CGC	H107R	XP_006718573.1
XM_011544943.2	1455	Missense Mutation	CAC,CGC	H107R	XP_011543245.1
XM_011544944.2	1455	Missense Mutation	CAC,CGC	H107R	XP_011543246.1
XM_011544947.2	1455	Missense Mutation	CAC,CGC	H149R	XP_011543249.1
XM_011544949.2	1455	Missense Mutation	CAC,CGC	H107R	XP_011543251.1
XM_017017562.1	1455	Missense Mutation	CAC,CGC	H149R	XP_016873051.1
XM_017017563.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873052.1
XM_017017564.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873053.1
XM_017017565.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873054.1
XM_017017566.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873055.1
XM_017017567.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873056.1
XM_017017568.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873057.1
XM_017017569.1	1455	Missense Mutation	CAC,CGC	H107R	XP_016873058.1
XM_017017570.1	1455	Missense Mutation	CAC,CGC	H45R	XP_016873059.1
XM_017017571.1	1455	Missense Mutation	CAC,CGC	H45R	XP_016873060.1

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