Product Details

SNP ID

rs201396285

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:179617807 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCATCTCACACTTACATTATAAA[C/T]GTCATTCTCAGTAGCTCTGTAAGGT

Phenotype

MIM: 601035 MIM: 610327

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HNRNPH1 PubMed Links

Gene Details

Gene

HNRNPH1

Gene Name

heterogeneous nuclear ribonucleoprotein H1 (H)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257293.1	868	Missense Mutation	ATT,GTT	I305V	NP_001244222.1
NM_005520.2	868	Intron			NP_005511.1
XM_005265895.2	868	Missense Mutation	ATT,GTT	I305V	XP_005265952.1
XM_005265896.2	868	Missense Mutation	ATT,GTT	I305V	XP_005265953.1
XM_005265901.1	868	Missense Mutation	ATT,GTT	I104V	XP_005265958.1
XM_005265902.4	868	Missense Mutation	ATT,GTT	I104V	XP_005265959.1
XM_006714862.2	868	Missense Mutation	ATT,GTT	I305V	XP_006714925.1
XM_006714863.2	868	Missense Mutation	ATT,GTT	I305V	XP_006714926.1
XM_011534542.1	868	Missense Mutation	ATT,GTT	I305V	XP_011532844.1
XM_011534544.1	868	Missense Mutation	ATT,GTT	I305V	XP_011532846.1
XM_011534545.1	868	Missense Mutation	ATT,GTT	I305V	XP_011532847.1
XM_011534546.1	868	Missense Mutation	ATT,GTT	I305V	XP_011532848.1
XM_011534547.1	868	Missense Mutation	ATT,GTT	I305V	XP_011532849.1
XM_017009414.1	868	Missense Mutation	ATT,GTT	I305V	XP_016864903.1
XM_017009415.1	868	Missense Mutation	ATT,GTT	I305V	XP_016864904.1
XM_017009416.1	868	Missense Mutation	ATT,GTT	I305V	XP_016864905.1
XM_017009417.1	868	Missense Mutation	ATT,GTT	I305V	XP_016864906.1
XM_017009418.1	868	Missense Mutation	ATT,GTT	I305V	XP_016864907.1
XM_017009419.1	868	Missense Mutation	ATT,GTT	I305V	XP_016864908.1
XM_017009420.1	868	Missense Mutation	ATT,GTT	I104V	XP_016864909.1
XM_017009421.1	868	Missense Mutation	ATT,GTT	I104V	XP_016864910.1
XM_017009422.1	868	Missense Mutation	ATT,GTT	I104V	XP_016864911.1
XM_017009423.1	868	Missense Mutation	ATT,GTT	I104V	XP_016864912.1
XM_017009424.1	868	Missense Mutation	ATT,GTT	I142V	XP_016864913.1
XM_017009425.1	868	Intron			XP_016864914.1

Gene

RUFY1

Gene Name

RUN and FYVE domain containing 1

There are no transcripts associated with this gene.

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