Product Details

SNP ID

rs202143954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61353049 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCGATGGACAGAGAGAGGATGG[C/T]GGCTCCAAAAAAGACGTGGATAGGT

Phenotype

MIM: 615844 MIM: 614459

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYB561A3 PubMed Links

Gene Details

Gene

CYB561A3

Gene Name

cytochrome b561 family member A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161452.1	1331	Missense Mutation	ACC,GCC	T162A	NP_001154924.1
NM_001161454.1	1331	Missense Mutation	ACC,GCC	T179A	NP_001154926.1
NM_001300763.1	1331	Missense Mutation	ACC,GCC	T162A	NP_001287692.1
NM_153611.4	1331	Missense Mutation	ACC,GCC	T162A	NP_705839.3
XM_011544821.1	1331	Missense Mutation	ACC,GCC	T179A	XP_011543123.1
XM_011544823.1	1331	Missense Mutation	ACC,GCC	T162A	XP_011543125.1
XM_011544824.1	1331	Missense Mutation	CAC,CGC	H198R	XP_011543126.1
XM_017017345.1	1331	Missense Mutation	ACC,GCC	T179A	XP_016872834.1
XM_017017346.1	1331	Missense Mutation	ACC,GCC	T162A	XP_016872835.1
XM_017017347.1	1331	Missense Mutation	ACC,GCC	T43A	XP_016872836.1

Gene

TKFC

Gene Name

triokinase and FMN cyclase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015533.3	1331	Intron			NP_056348.2
XM_011544912.2	1331	Intron			XP_011543214.1
XM_017017517.1	1331	Intron			XP_016873006.1
XM_017017518.1	1331	UTR 3			XP_016873007.1
XM_017017519.1	1331	Intron			XP_016873008.1
XM_017017520.1	1331	Intron			XP_016873009.1
XM_017017521.1	1331	Intron			XP_016873010.1
XM_017017522.1	1331	UTR 3			XP_016873011.1
XM_017017523.1	1331	Intron			XP_016873012.1
XM_017017524.1	1331	Intron			XP_016873013.1

Gene

TMEM138

Gene Name

transmembrane protein 138

There are no transcripts associated with this gene.

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