Product Details

SNP ID

rs73554721

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38730920 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACAGTGGCTTGAGGCAGGGAGCT[C/T]GCAGGACAGAGCCTGAGCCACCCTG

Phenotype

MIM: 604638 MIM: 608839

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTN4 PubMed Links

Gene Details

Gene

ACTN4

Gene Name

actinin alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322033.1		Intron			NP_001308962.1
NM_004924.5		Intron			NP_004915.2
XM_005259281.4		Intron			XP_005259338.1
XM_006723406.2		Intron			XP_006723469.1
XM_017027331.1		Intron			XP_016882820.1

Gene

CAPN12

Gene Name

calpain 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144691.4		Intron			NP_653292.2
XM_017026355.1		Intron			XP_016881844.1
XM_017026356.1		Intron			XP_016881845.1
XM_017026357.1		Intron			XP_016881846.1
XM_017026358.1		Intron			XP_016881847.1
XM_017026359.1		Intron			XP_016881848.1
XM_017026360.1		Intron			XP_016881849.1
XM_017026361.1		Intron			XP_016881850.1
XM_017026362.1		Intron			XP_016881851.1
XM_017026363.1		Intron			XP_016881852.1
XM_017026364.1		Intron			XP_016881853.1
XM_017026365.1		Intron			XP_016881854.1

View Full Product Details