Product Details

SNP ID

rs2268808

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:19341196 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

CATGCTGGGGAAATACACGTTTCTG[A/C]GTATCTTCCCAGGACTGTCCCTGGC

Phenotype

MIM: 601572 MIM: 614760

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CAPZB PubMed Links

Gene Details

Gene

CAPZB

Gene Name

capping actin protein of muscle Z-line beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206540.2		Intron			NP_001193469.1
NM_001206541.2		Intron			NP_001193470.1
NM_001282162.1		Intron			NP_001269091.1
NM_001313932.1		Intron			NP_001300861.1
NM_004930.4		Intron			NP_004921.1
XM_006710938.3		Intron			XP_006711001.1
XM_011542228.2		Intron			XP_011540530.1
XM_011542229.2		Intron			XP_011540531.1
XM_011542230.2		Intron			XP_011540532.1
XM_017002428.1		Intron			XP_016857917.1
XM_017002429.1		Intron			XP_016857918.1
XM_017002430.1		Intron			XP_016857919.1

Gene

PQLC2

Gene Name

PQ loop repeat containing 2

There are no transcripts associated with this gene.

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