Product Details

SNP ID

rs200143945

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:44962912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCAACTTCTCTCGGACGTTCTCC[A/G]GGGTCAGGGGGAGGCAGGCCAGCTT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM179B PubMed Links

Gene Details

Gene

FAM179B

Gene Name

family with sequence similarity 179 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308120.1	694	Missense Mutation	CAG,CGG	Q164R	NP_001295049.1
NM_015091.3	694	Missense Mutation	CAG,CGG	Q164R	NP_055906.2
XM_011536571.1	694	Missense Mutation	CAG,CGG	Q164R	XP_011534873.1
XM_017021098.1	694	Missense Mutation	CAG,CGG	Q164R	XP_016876587.1
XM_017021099.1	694	Missense Mutation	CAG,CGG	Q164R	XP_016876588.1
XM_017021100.1	694	Missense Mutation	CAG,CGG	Q164R	XP_016876589.1

Gene

KLHL28

Gene Name

kelch like family member 28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308112.1	694	Intron			NP_001295041.1
NM_017658.4	694	Intron			NP_060128.2
XM_005267770.3	694	Intron			XP_005267827.1
XM_006720174.3	694	Intron			XP_006720237.1
XM_011536847.2	694	Intron			XP_011535149.1
XM_011536849.2	694	Intron			XP_011535151.1
XM_017021378.1	694	Intron			XP_016876867.1

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