Product Details

SNP ID

rs6637934

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:132078614 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGTGTAAGTTAGCTGCTTTGCTGGA[C/T]GCACTTTGCTTGTGAGGCCAGAATA

Phenotype

MIM: 300628 MIM: 300547

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FRMD7 PubMed Links

Gene Details

Gene

FRMD7

Gene Name

FERM domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306193.1	1543	Missense Mutation	CAT,CGT	H453R	NP_001293122.1
NM_194277.2	1543	Missense Mutation	CAT,CGT	H468R	NP_919253.1
XM_017029947.1	1543	Missense Mutation	CAT,CGT	H452R	XP_016885436.1
XM_017029948.1	1543	Missense Mutation	CAT,CGT	H383R	XP_016885437.1
XM_017029949.1	1543	Missense Mutation	CAT,CGT	H310R	XP_016885438.1

Gene

STK26

Gene Name

serine/threonine protein kinase 26

There are no transcripts associated with this gene.

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