Product Details

SNP ID

rs113366386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:113589080 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCTCCACTGCTTCTGCCCCCCG[C/G]TGCTGAAATCAAACATACCCCAAGT

Phenotype

MIM: 603924 MIM: 602873

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HABP2 PubMed Links

Gene Details

Gene

HABP2

Gene Name

hyaluronan binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177660.2	2538	UTR 3			NP_001171131.1
NM_004132.4	2538	UTR 3			NP_004123.1

Gene

NRAP

Gene Name

nebulin related anchoring protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261463.1	2538	Missense Mutation	CAC,CAG	H1697Q	NP_001248392.1
NM_001322945.1	2538	Intron			NP_001309874.1
NM_006175.4	2538	Intron			NP_006166.3
NM_198060.3	2538	Intron			NP_932326.2
XM_005269864.2	2538	Missense Mutation	CAC,CAG	H1662Q	XP_005269921.1
XM_005269865.2	2538	Missense Mutation	CAC,CAG	H1661Q	XP_005269922.1
XM_005269867.2	2538	Missense Mutation	CAC,CAG	H1593Q	XP_005269924.1
XM_006717870.2	2538	Missense Mutation	CAC,CAG	H1662Q	XP_006717933.1
XM_011539832.2	2538	Missense Mutation	CAC,CAG	H1661Q	XP_011538134.1

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