Product Details

SNP ID

rs3199937

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:68342992 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTGCAGTTGGGTTTTGTATCTGAT[A/C]CCTGCTTGGAGTTTTAGTTTAAAGA

Phenotype

MIM: 602324 MIM: 610328

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HNRNPH3 PubMed Links

Gene Details

Gene

HNRNPH3

Gene Name

heterogeneous nuclear ribonucleoprotein H3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322434.1	2190	UTR 3			NP_001309363.1
NM_001322436.1	2190	UTR 3			NP_001309365.1
NM_001322437.1	2190	UTR 3			NP_001309366.1
NM_001322438.1	2190	UTR 3			NP_001309367.1
NM_001322439.1	2190	UTR 3			NP_001309368.1
NM_001322440.1	2190	UTR 3			NP_001309369.1
NM_001322441.1	2190	UTR 3			NP_001309370.1
NM_001322442.1	2190	UTR 3			NP_001309371.1
NM_001322443.1	2190	UTR 3			NP_001309372.1
NM_001322444.1	2190	UTR 3			NP_001309373.1
NM_001322445.1	2190	UTR 3			NP_001309374.1
NM_001322446.1	2190	UTR 3			NP_001309375.1
NM_001322447.1	2190	UTR 3			NP_001309376.1
NM_001322448.1	2190	UTR 3			NP_001309377.1
NM_001322449.1	2190	UTR 3			NP_001309378.1
NM_001322450.1	2190	UTR 3			NP_001309379.1
NM_001322451.1	2190	UTR 3			NP_001309380.1
NM_001322452.1	2190	UTR 3			NP_001309381.1
NM_001322453.1	2190	UTR 3			NP_001309382.1
NM_012207.2	2190	UTR 3			NP_036339.1
NM_021644.3	2190	UTR 3			NP_067676.2
XM_011539742.1	2190	UTR 3			XP_011538044.1
XM_017016168.1	2190	UTR 3			XP_016871657.1
XM_017016169.1	2190	UTR 3			XP_016871658.1

Gene

RUFY2

Gene Name

RUN and FYVE domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042417.1	2190	Intron			NP_001035882.1
NM_001278225.1	2190	Intron			NP_001265154.1
NM_017987.4	2190	Intron			NP_060457.4
XM_005269953.4	2190	Intron			XP_005270010.1
XM_005269955.4	2190	Intron			XP_005270012.1
XM_005269956.4	2190	Intron			XP_005270013.1
XM_005269957.4	2190	Intron			XP_005270014.1
XM_006717911.3	2190	Intron			XP_006717974.1
XM_011539942.2	2190	Intron			XP_011538244.1

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