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SNP ID

rs143745216

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:163464792 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTCAGCTAGAAAAGTTAAGTCTT[C/G]GGAATCAAAGGTGAGGAGCTTTTAT

Phenotype

MIM: 600936

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HMMR PubMed Links

Gene Details

Gene

HMMR

Gene Name

hyaluronan mediated motility receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142556.1	397	Missense Mutation	TCG,TGG	S72W	NP_001136028.1
NM_001142557.1	397	Intron			NP_001136029.1
NM_012484.2	397	Missense Mutation	TCG,TGG	S72W	NP_036616.2
NM_012485.2	397	Missense Mutation	TCG,TGG	S72W	NP_036617.2

Gene

NUDCD2

Gene Name

NudC domain containing 2

There are no transcripts associated with this gene.

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