Product Details

SNP ID

rs199753421

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:15598977 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGGCGCACACAGGAGGTCGACGG[A/G]GGAGTCGTCGGTCAGGCGGAGAAGC

Phenotype

MIM: 614593

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C16orf45 PubMed Links

Gene Details

Gene

C16orf45

Gene Name

chromosome 16 open reading frame 45

There are no transcripts associated with this gene.

Gene

KIAA0430

Gene Name

KIAA0430

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184998.1	4902	Missense Mutation	CCC,TCC	P1621S	NP_001171927.1
NM_001184999.1	4902	Missense Mutation	CCC,TCC	P1618S	NP_001171928.1
NM_014647.3	4902	Missense Mutation	CCC,TCC	P1621S	NP_055462.2
XM_005255704.1	4902	Missense Mutation	CCC,TCC	P1622S	XP_005255761.1
XM_005255706.1	4902	Missense Mutation	CCC,TCC	P1620S	XP_005255763.1
XM_005255707.1	4902	Missense Mutation	CCC,TCC	P1612S	XP_005255764.1
XM_017023900.1	4902	Missense Mutation	CCC,TCC	P1622S	XP_016879389.1
XM_017023901.1	4902	Missense Mutation	CCC,TCC	P1621S	XP_016879390.1
XM_017023902.1	4902	Missense Mutation	CCC,TCC	P1568S	XP_016879391.1
XM_017023903.1	4902	Missense Mutation	CCC,TCC	P1479S	XP_016879392.1
XM_017023904.1	4902	Missense Mutation	CCC,TCC	P1478S	XP_016879393.1
XM_017023905.1	4902	Missense Mutation	CCC,TCC	P1443S	XP_016879394.1
XM_017023906.1	4902	Missense Mutation	CCC,TCC	P1442S	XP_016879395.1

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