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SNP ID

rs144985817

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50286740 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGATGAGCTGCTGGGCGTTTTGC[C/T]GCCGTCACTGTGTGCCCAGGCTGGC

Phenotype

MIM: 604038 MIM: 602725 MIM: 607073 MIM: 601281

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HYAL3 PubMed Links

Gene Details

Gene

HYAL3

Gene Name

hyaluronoglucosaminidase 3

There are no transcripts associated with this gene.

Gene

IFRD2

Gene Name

interferon related developmental regulator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006764.4	323	Intron			NP_006755.4

Gene

LSMEM2

Gene Name

leucine rich single-pass membrane protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304385.1	323	Missense Mutation	CCG,CTG	P79L	NP_001291314.1
NM_153215.2	323	Missense Mutation	CCG,CTG	P80L	NP_694947.1
XM_006712979.3	323	Missense Mutation	CCG,CTG	P89L	XP_006713042.1
XM_006712980.3	323	Missense Mutation	CCG,CTG	P88L	XP_006713043.1
XM_011533370.2	323	Missense Mutation	CCG,CTG	P56L	XP_011531672.1

Gene

NAT6

Gene Name

N-acetyltransferase 6

There are no transcripts associated with this gene.

Gene

SEMA3B

Gene Name

semaphorin 3B

There are no transcripts associated with this gene.

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