Product Details

SNP ID

rs148936113

Assay Type

Functionally Tested

NCBI dbSNP Submissions

4

Location

Chr.1:153540137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTTGCTACCCTCTCTCCCCGAAT[A/G]TTTGTGAAACGTGGTCACCATAGTG

Phenotype

MIM: 176992 MIM: 114210 MIM: 176991 MIM: 114110

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LOC101928034 PubMed Links

Additional Information

For this assay, SNP(s) [rs2230870] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

LOC101928034

Gene Name

uncharacterized LOC101928034

There are no transcripts associated with this gene.

Gene

S100A3

Gene Name

S100 calcium binding protein A3

There are no transcripts associated with this gene.

Gene

S100A4

Gene Name

S100 calcium binding protein A4

There are no transcripts associated with this gene.

Gene

S100A5

Gene Name

S100 calcium binding protein A5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002962.1	827	Missense Mutation	CAT,TAT	H19Y	NP_002953.2
XM_011509860.2	827	Missense Mutation	CAT,TAT	H31Y	XP_011508162.1
XM_017002029.1	827	Missense Mutation	CAT,TAT	H60Y	XP_016857518.1
XM_017002030.1	827	Missense Mutation	CAT,TAT	H37Y	XP_016857519.1
XM_017002031.1	827	Missense Mutation	CAT,TAT	H19Y	XP_016857520.1
XM_017002032.1	827	Missense Mutation	CAT,TAT	H19Y	XP_016857521.1

Gene

S100A6

Gene Name

S100 calcium binding protein A6

There are no transcripts associated with this gene.

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