Product Details

SNP ID

rs116158145

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:94598534 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGAGTTTAATATCAGTGTCAATT[C/T]CTTAAATATTAAGGTATATGTAGTC

Phenotype

MIM: 611686 MIM: 604149

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CASD1 PubMed Links

Gene Details

Gene

CASD1

Gene Name

CAS1 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022900.4		Intron			NP_075051.4
XM_006716092.3		Intron			XP_006716155.1
XM_006716093.3		Intron			XP_006716156.2
XM_011516495.2		Intron			XP_011514797.1
XM_017012546.1		Intron			XP_016868035.1
XM_017012547.1		Intron			XP_016868036.1

Gene

SGCE

Gene Name

sarcoglycan epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099400.1		Intron			NP_001092870.1
NM_001099401.1		Intron			NP_001092871.1
NM_001301139.1		Intron			NP_001288068.1
NM_003919.2		Intron			NP_003910.1
XM_005250675.4		Intron			XP_005250732.1
XM_005250677.4		Intron			XP_005250734.1
XM_011516663.2		Intron			XP_011514965.1
XM_011516664.2		Intron			XP_011514966.1
XM_011516665.2		Intron			XP_011514967.1
XM_011516666.2		Intron			XP_011514968.1
XM_011516667.2		Intron			XP_011514969.1
XM_011516669.2		Intron			XP_011514971.1
XM_017012763.1		Intron			XP_016868252.1
XM_017012764.1		Intron			XP_016868253.1
XM_017012765.1		Intron			XP_016868254.1
XM_017012766.1		Intron			XP_016868255.1
XM_017012767.1		Intron			XP_016868256.1
XM_017012768.1		Intron			XP_016868257.1
XM_017012769.1		Intron			XP_016868258.1
XM_017012770.1		Intron			XP_016868259.1

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