Product Details

SNP ID

rs201676120

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38221645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAAGTTGTGGATGGCGTCCTGCA[C/T]GATGTCGTGCGGGTTCATGGTCTCC

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	1257	Missense Mutation	ATG,GTG	M350V	NP_001182000.1
NM_001195072.1	1257	Missense Mutation	ATG,GTG	M284V	NP_001182001.1
NM_012264.4	1257	Missense Mutation	ATG,GTG	M350V	NP_036396.2
XM_011530112.2	1257	Missense Mutation	ATG,GTG	M390V	XP_011528414.2
XM_011530113.1	1257	Missense Mutation	ATG,GTG	M362V	XP_011528415.1
XM_011530114.1	1257	Missense Mutation	ATG,GTG	M362V	XP_011528416.1
XM_011530115.2	1257	Missense Mutation	ATG,GTG	M338V	XP_011528417.1
XM_011530116.2	1257	Intron			XP_011528418.2
XM_011530117.1	1257	Missense Mutation	ATG,GTG	M296V	XP_011528419.1
XM_011530118.1	1257	Missense Mutation	ATG,GTG	M296V	XP_011528420.1
XM_011530119.1	1257	Missense Mutation	ATG,GTG	M246V	XP_011528421.1
XM_017028754.1	1257	Missense Mutation	ATG,GTG	M395V	XP_016884243.1
XM_017028755.1	1257	Missense Mutation	ATG,GTG	M383V	XP_016884244.1
XM_017028756.1	1257	Missense Mutation	ATG,GTG	M357V	XP_016884245.1
XM_017028757.1	1257	Missense Mutation	ATG,GTG	M333V	XP_016884246.1
XM_017028758.1	1257	Intron			XP_016884247.1
XM_017028759.1	1257	Missense Mutation	ATG,GTG	M234V	XP_016884248.1

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