Product Details

SNP ID: rs6787916
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:52833699 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCCTCGGGCCCCCTTCAGGTCCTC[C/G]TCCTTCACAGGGGGGCGCTTCTTCT
Phenotype: MIM: 600564
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: ITIH4 PubMed Links

Gene Details

Gene: ITIH4
Gene Name: inter-alpha-trypsin inhibitor heavy chain family member 4

There are no transcripts associated with this gene.

Gene: ITIH4-AS1
Gene Name: ITIH4 antisense RNA 1

There are no transcripts associated with this gene.

Gene: MUSTN1
Gene Name: musculoskeletal, embryonic nuclear protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_205853.3	1061	Missense Mutation	GAC,GAG	D20E	NP_995325.3

Gene: TMEM110
Gene Name: transmembrane protein 110

There are no transcripts associated with this gene.

Gene: TMEM110-MUSTN1
Gene Name: TMEM110-MUSTN1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198974.2	1061	Missense Mutation	GAC,GAG	D310E	NP_001185903.2

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