Product Details

SNP ID

rs150756783

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:91262571 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAATTTGATAAAGAAATATCCGA[C/T]ATCTCATGTGATGAAACAAAACTAA

Phenotype

MIM: 615684

Polymorphism

C/T, 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	3142	Missense Mutation	ATA,ATG	I1332M	NP_001017975.4
XM_011540849.1	3142	Missense Mutation	ATA,ATG	I1332M	XP_011539151.1
XM_011540850.2	3142	Missense Mutation	ATA,ATG	I1332M	XP_011539152.1
XM_011540851.1	3142	Missense Mutation	ATA,ATG	I1332M	XP_011539153.1
XM_011540852.2	3142	Missense Mutation	ATA,ATG	I1332M	XP_011539154.1
XM_011540855.1	3142	Missense Mutation	ATA,ATG	I1290M	XP_011539157.1
XM_011540857.1	3142	Missense Mutation	ATA,ATG	I1191M	XP_011539159.1
XM_011540859.2	3142	Missense Mutation	ATA,ATG	I941M	XP_011539161.1
XM_017000490.1	3142	Missense Mutation	ATA,ATG	I1305M	XP_016855979.1
XM_017000491.1	3142	Missense Mutation	ATA,ATG	I1288M	XP_016855980.1
XM_017000492.1	3142	Missense Mutation	ATA,ATG	I1011M	XP_016855981.1
XM_017000493.1	3142	Missense Mutation	ATA,ATG	I775M	XP_016855982.1
XM_017000494.1	3142	Intron			XP_016855983.1
XM_017000495.1	3142	Intron			XP_016855984.1
XM_017000496.1	3142	Intron			XP_016855985.1

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