Product Details

SNP ID

rs200629305

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65376847 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTGGCCTTCTGGTGTGTACTGG[C/T]GACAGAGCCCTTCATAGGTGATGAA

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	1578	Missense Mutation	CAC,CGC	H148R	NP_001070709.2
NM_001278250.2	1578	Missense Mutation	CAC,CGC	H166R	NP_001265179.2
NM_001278251.2	1578	Missense Mutation	CAC,CGC	H148R	NP_001265180.2
NM_001300820.1	1578	Missense Mutation	CAC,CGC	H128R	NP_001287749.1
NM_182556.3	1578	Missense Mutation	CAC,CGC	H190R	NP_872362.3
XM_006718509.3	1578	Missense Mutation	CAC,CGC	H148R	XP_006718572.1
XM_006718510.3	1578	Missense Mutation	CAC,CGC	H148R	XP_006718573.1
XM_011544943.2	1578	Missense Mutation	CAC,CGC	H148R	XP_011543245.1
XM_011544944.2	1578	Missense Mutation	CAC,CGC	H148R	XP_011543246.1
XM_011544947.2	1578	Missense Mutation	CAC,CGC	H190R	XP_011543249.1
XM_011544949.2	1578	Missense Mutation	CAC,CGC	H148R	XP_011543251.1
XM_017017562.1	1578	Missense Mutation	CAC,CGC	H190R	XP_016873051.1
XM_017017563.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873052.1
XM_017017564.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873053.1
XM_017017565.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873054.1
XM_017017566.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873055.1
XM_017017567.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873056.1
XM_017017568.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873057.1
XM_017017569.1	1578	Missense Mutation	CAC,CGC	H148R	XP_016873058.1
XM_017017570.1	1578	Missense Mutation	CAC,CGC	H86R	XP_016873059.1
XM_017017571.1	1578	Missense Mutation	CAC,CGC	H86R	XP_016873060.1

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