Product Details

SNP ID

rs201980911

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:91262569 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGAATTTGATAAAGAAATATCC[A/G]ACATCTCATGTGATGAAACAAAACT

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	3144	Missense Mutation	TCG,TTG	S1333L	NP_001017975.4
XM_011540849.1	3144	Missense Mutation	TCG,TTG	S1333L	XP_011539151.1
XM_011540850.2	3144	Missense Mutation	TCG,TTG	S1333L	XP_011539152.1
XM_011540851.1	3144	Missense Mutation	TCG,TTG	S1333L	XP_011539153.1
XM_011540852.2	3144	Missense Mutation	TCG,TTG	S1333L	XP_011539154.1
XM_011540855.1	3144	Missense Mutation	TCG,TTG	S1291L	XP_011539157.1
XM_011540857.1	3144	Missense Mutation	TCG,TTG	S1192L	XP_011539159.1
XM_011540859.2	3144	Missense Mutation	TCG,TTG	S942L	XP_011539161.1
XM_017000490.1	3144	Missense Mutation	TCG,TTG	S1306L	XP_016855979.1
XM_017000491.1	3144	Missense Mutation	TCG,TTG	S1289L	XP_016855980.1
XM_017000492.1	3144	Missense Mutation	TCG,TTG	S1012L	XP_016855981.1
XM_017000493.1	3144	Missense Mutation	TCG,TTG	S776L	XP_016855982.1
XM_017000494.1	3144	Intron			XP_016855983.1
XM_017000495.1	3144	Intron			XP_016855984.1
XM_017000496.1	3144	Intron			XP_016855985.1

View Full Product Details