Product Details

SNP ID

rs112115414

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:91262539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCATGGAGGATGCACTGAACTTG[A/G]GCATAGCAGAATTTGATAAAGAAAT

Phenotype

MIM: 615684

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HFM1 PubMed Links

Gene Details

Gene

HFM1

Gene Name

HFM1, ATP dependent DNA helicase homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017975.4	3174	Missense Mutation	CCC,CTC	P1343L	NP_001017975.4
XM_011540849.1	3174	Missense Mutation	CCC,CTC	P1343L	XP_011539151.1
XM_011540850.2	3174	Missense Mutation	CCC,CTC	P1343L	XP_011539152.1
XM_011540851.1	3174	Missense Mutation	CCC,CTC	P1343L	XP_011539153.1
XM_011540852.2	3174	Missense Mutation	CCC,CTC	P1343L	XP_011539154.1
XM_011540855.1	3174	Missense Mutation	CCC,CTC	P1301L	XP_011539157.1
XM_011540857.1	3174	Missense Mutation	CCC,CTC	P1202L	XP_011539159.1
XM_011540859.2	3174	Missense Mutation	CCC,CTC	P952L	XP_011539161.1
XM_017000490.1	3174	Missense Mutation	CCC,CTC	P1316L	XP_016855979.1
XM_017000491.1	3174	Missense Mutation	CCC,CTC	P1299L	XP_016855980.1
XM_017000492.1	3174	Missense Mutation	CCC,CTC	P1022L	XP_016855981.1
XM_017000493.1	3174	Missense Mutation	CCC,CTC	P786L	XP_016855982.1
XM_017000494.1	3174	Intron			XP_016855983.1
XM_017000495.1	3174	Intron			XP_016855984.1
XM_017000496.1	3174	Intron			XP_016855985.1

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