Product Details

SNP ID

rs80222959

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:179617497 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATCACCTGTTAAGAGCCCACAAA[A/T]GCTCAATCACACTTACGCATATTTG

Phenotype

MIM: 601035 MIM: 610327

Polymorphism

A/T, Transversion 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		Intron			NP_001244222.1
NM_005520.2		Intron			NP_005511.1
XM_005265895.2		Intron			XP_005265952.1
XM_005265896.2		Intron			XP_005265953.1
XM_005265901.1		Intron			XP_005265958.1
XM_005265902.4		Intron			XP_005265959.1
XM_006714862.2		Intron			XP_006714925.1
XM_006714863.2		Intron			XP_006714926.1
XM_011534542.1		Intron			XP_011532844.1
XM_011534544.1		Intron			XP_011532846.1
XM_011534545.1		Intron			XP_011532847.1
XM_011534546.1		Intron			XP_011532848.1
XM_011534547.1		Intron			XP_011532849.1
XM_017009414.1		Intron			XP_016864903.1
XM_017009415.1		Intron			XP_016864904.1
XM_017009416.1		Intron			XP_016864905.1
XM_017009417.1		Intron			XP_016864906.1
XM_017009418.1		Intron			XP_016864907.1
XM_017009419.1		Intron			XP_016864908.1
XM_017009420.1		Intron			XP_016864909.1
XM_017009421.1		Intron			XP_016864910.1
XM_017009422.1		Intron			XP_016864911.1
XM_017009423.1		Intron			XP_016864912.1
XM_017009424.1		Intron			XP_016864913.1
XM_017009425.1		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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