Product Details

SNP ID

rs202020493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:83456159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTAACGGCTGCTGTCAGCCTTACA[C/T]ATCCCGGGACTCACACGGGTAAAGT

Phenotype

MIM: 611143 MIM: 606769 MIM: 611983

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM175A PubMed Links

Gene Details

Gene

FAM175A

Gene Name

family with sequence similarity 175 member A

There are no transcripts associated with this gene.

Gene

HELQ

Gene Name

helicase, POLQ-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297755.1	228	Intron			NP_001284684.1
NM_001297756.1	228	Intron			NP_001284685.1
NM_001297757.1	228	Intron			NP_001284686.1
NM_001297758.1	228	Intron			NP_001284687.1
NM_001297759.1	228	Intron			NP_001284688.1
NM_133636.3	228	Intron			NP_598375.2
XM_005262711.1	228	Intron			XP_005262768.1
XM_005262713.2	228	Intron			XP_005262770.1
XM_006714076.2	228	Intron			XP_006714139.1
XM_011531580.2	228	Intron			XP_011529882.1
XM_017007679.1	228	Intron			XP_016863168.1
XM_017007680.1	228	Intron			XP_016863169.1
XM_017007681.1	228	Intron			XP_016863170.1
XM_017007682.1	228	Intron			XP_016863171.1
XM_017007683.1	228	Intron			XP_016863172.1

Gene

MRPS18C

Gene Name

mitochondrial ribosomal protein S18C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297767.1	228	Missense Mutation	CAT,TAT	H28Y	NP_001284696.1
NM_001297769.1	228	Missense Mutation	CAT,TAT	H28Y	NP_001284698.1
NM_001297770.1	228	Missense Mutation	CAT,TAT	H28Y	NP_001284699.1
NM_016067.3	228	Missense Mutation	CAT,TAT	H28Y	NP_057151.1

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