Product Details

SNP ID

rs28933693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50167653 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACCCAGACCTGCCCCGGTGGCTC[C/T]GCTACACCCAGCGCAGCCCCCACCA

Phenotype

MIM: 608101 MIM: 600119

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HILS1 PubMed Links

Gene Details

Gene

HILS1

Gene Name

histone linker H1 domain, spermatid-specific 1 (pseudogene)

There are no transcripts associated with this gene.

Gene

SGCA

Gene Name

sarcoglycan alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000023.3	753	Missense Mutation	CGC,TGC	R77C	NP_000014.1
NM_001135697.2	753	Missense Mutation	CGC,TGC	R77C	NP_001129169.1
XM_011525120.2	753	Missense Mutation	CGC,TGC	R131C	XP_011523422.2
XM_011525121.2	753	Missense Mutation	CGC,TGC	R131C	XP_011523423.2
XM_011525122.2	753	Missense Mutation	CGC,TGC	R131C	XP_011523424.2
XM_011525123.2	753	Missense Mutation	CGC,TGC	R131C	XP_011523425.2
XM_011525124.2	753	Intron			XP_011523426.1
XM_017024950.1	753	Missense Mutation	CGC,TGC	R131C	XP_016880439.1

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