Product Details

SNP ID

rs79080189

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:93452079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGGACGCCGACAACTGCCTGC[C/A]CCGCCTCTACGGCGGCTTCTACACC

Phenotype

MIM: 612265

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

FAM120A PubMed Links

Gene Details

Gene

FAM120A

Gene Name

family with sequence similarity 120A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286722.1	201	Missense Mutation	CAC,CCC	H55P	NP_001273651.1
NM_001286723.1	201	Missense Mutation	CAC,CCC	H55P	NP_001273652.1
NM_001286724.1	201	Missense Mutation	CAC,CCC	H55P	NP_001273653.1
NM_014612.4	201	Missense Mutation	CAC,CCC	H55P	NP_055427.2
XM_005251842.4	201	Missense Mutation	CAC,CCC	H55P	XP_005251899.1
XM_011518412.2	201	Missense Mutation	CAC,CCC	H55P	XP_011516714.1
XM_011518413.2	201	Missense Mutation	CAC,CCC	H55P	XP_011516715.1
XM_011518414.2	201	Missense Mutation	CAC,CCC	H55P	XP_011516716.1
XM_011518416.2	201	Missense Mutation	CAC,CCC	H55P	XP_011516718.1

Gene

FAM120AOS

Gene Name

family with sequence similarity 120A opposite strand

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322224.1	201	Intron			NP_001309153.1
NM_198841.2	201	Intron			NP_942138.2

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