Product Details

SNP ID

rs150283064

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38221563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGAGAGGCCGTGGGCGCCACCA[C/T]GCCAGGTGGGCCCAGGCTCCAGGGT

Phenotype

MIM: 604877

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAFF PubMed Links

Gene Details

Gene

MAFF

Gene Name

MAF bZIP transcription factor F

There are no transcripts associated with this gene.

Gene

SNORA92

Gene Name

small nucleolar RNA, H/ACA box 92

There are no transcripts associated with this gene.

Gene

TMEM184B

Gene Name

transmembrane protein 184B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195071.1	1339	Missense Mutation	CAT,CGT	H377R	NP_001182000.1
NM_001195072.1	1339	Missense Mutation	CAT,CGT	H311R	NP_001182001.1
NM_012264.4	1339	Missense Mutation	CAT,CGT	H377R	NP_036396.2
XM_011530112.2	1339	Missense Mutation	CAT,CGT	H417R	XP_011528414.2
XM_011530113.1	1339	Missense Mutation	CAT,CGT	H389R	XP_011528415.1
XM_011530114.1	1339	Missense Mutation	CAT,CGT	H389R	XP_011528416.1
XM_011530115.2	1339	Missense Mutation	CAT,CGT	H365R	XP_011528417.1
XM_011530116.2	1339	Intron			XP_011528418.2
XM_011530117.1	1339	Missense Mutation	CAT,CGT	H323R	XP_011528419.1
XM_011530118.1	1339	Missense Mutation	CAT,CGT	H323R	XP_011528420.1
XM_011530119.1	1339	Missense Mutation	CAT,CGT	H273R	XP_011528421.1
XM_017028754.1	1339	Missense Mutation	CAT,CGT	H422R	XP_016884243.1
XM_017028755.1	1339	Missense Mutation	CAT,CGT	H410R	XP_016884244.1
XM_017028756.1	1339	Missense Mutation	CAT,CGT	H384R	XP_016884245.1
XM_017028757.1	1339	Missense Mutation	CAT,CGT	H360R	XP_016884246.1
XM_017028758.1	1339	Intron			XP_016884247.1
XM_017028759.1	1339	Missense Mutation	CAT,CGT	H261R	XP_016884248.1

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