Product Details

SNP ID

rs139378430

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45824027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCGGCCGTCGTTGTTCTTGTCGC[C/T]GTCTTTCATCAGAGATTCGATCTCC

Phenotype

MIM: 191039 MIM: 605574

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SNX21 PubMed Links

Gene Details

Gene

SNX21

Gene Name

sorting nexin family member 21

There are no transcripts associated with this gene.

Gene

TNNC2

Gene Name

troponin C2, fast skeletal type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003279.2	491	Missense Mutation	AGC,GGC	S139G	NP_003270.1
XM_011529031.2	491	Missense Mutation	AGC,GGC	S124G	XP_011527333.1

Gene

UBE2C

Gene Name

ubiquitin conjugating enzyme E2 C

There are no transcripts associated with this gene.

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