Product Details

SNP ID

rs200535976

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:91262516 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCGGCTTGTTGAGGTAATTTTG[C/T]CATGGAGGATGCACTGAACTTGGGC

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	3197	Missense Mutation	ACA,GCA	T1351A	NP_001017975.4
XM_011540849.1	3197	Missense Mutation	ACA,GCA	T1351A	XP_011539151.1
XM_011540850.2	3197	Missense Mutation	ACA,GCA	T1351A	XP_011539152.1
XM_011540851.1	3197	Missense Mutation	ACA,GCA	T1351A	XP_011539153.1
XM_011540852.2	3197	Missense Mutation	ACA,GCA	T1351A	XP_011539154.1
XM_011540855.1	3197	Missense Mutation	ACA,GCA	T1309A	XP_011539157.1
XM_011540857.1	3197	Missense Mutation	ACA,GCA	T1210A	XP_011539159.1
XM_011540859.2	3197	Missense Mutation	ACA,GCA	T960A	XP_011539161.1
XM_017000490.1	3197	Missense Mutation	ACA,GCA	T1324A	XP_016855979.1
XM_017000491.1	3197	Missense Mutation	ACA,GCA	T1307A	XP_016855980.1
XM_017000492.1	3197	Missense Mutation	ACA,GCA	T1030A	XP_016855981.1
XM_017000493.1	3197	Missense Mutation	ACA,GCA	T794A	XP_016855982.1
XM_017000494.1	3197	Intron			XP_016855983.1
XM_017000495.1	3197	Intron			XP_016855984.1
XM_017000496.1	3197	Intron			XP_016855985.1

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