Product Details

SNP ID

rs185292543

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218664194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGTTCTGGCTTTAGGTCCATGGG[C/G]TCCTTGAGGGGCCCCTCAGGAGGTG

Phenotype

MIM: 603647 MIM: 616014 MIM: 607652 MIM: 604083

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BCS1L PubMed Links

Gene Details

Gene

BCS1L

Gene Name

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079866.1	1231	Intron			NP_001073335.1
NM_001257342.1	1231	Intron			NP_001244271.1
NM_001257343.1	1231	Intron			NP_001244272.1
NM_001257344.1	1231	Intron			NP_001244273.1
NM_001318836.1	1231	Intron			NP_001305765.1
NM_001320717.1	1231	Intron			NP_001307646.1
NM_004328.4	1231	Intron			NP_004319.1
XM_005246748.2	1231	Intron			XP_005246805.1
XM_005246749.3	1231	Intron			XP_005246806.1
XM_006712678.1	1231	Intron			XP_006712741.1
XM_017004631.1	1231	Intron			XP_016860120.1
XM_017004632.1	1231	Intron			XP_016860121.1
XM_017004633.1	1231	Intron			XP_016860122.1
XM_017004634.1	1231	Intron			XP_016860123.1

Gene

RNF25

Gene Name

ring finger protein 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022453.2	1231	Missense Mutation	GAC,GAG	D381E	NP_071898.2
XM_017004695.1	1231	Missense Mutation	GAC,GAG	D269E	XP_016860184.1

Gene

STK36

Gene Name

serine/threonine kinase 36

There are no transcripts associated with this gene.

Gene

ZNF142

Gene Name

zinc finger protein 142

There are no transcripts associated with this gene.

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